You searched for subject:( Y chromosome).
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Oregon State University
1.
Wyandt, Herman Edwin, 1939-.
Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography.
Degree: PhD, Zoology, 1971, Oregon State University
URL: http://hdl.handle.net/1957/45432 
► Part of the Y chromosome in humans is detectable as a brightly fluorescing body in interphase nuclei stained with quinacrine dyes. This fluorescent body when…
(more)
▼ Part of the
Y chromosome in humans is detectable as a brightly
fluorescing body in interphase nuclei stained with quinacrine dyes.
This fluorescent body when stained with quinacrine mustard dihydrochloride,
in cells from some 15 human subjects, was seen to manifest
a variable morphology which appeared to be related to the stage of
the nucleus in the cell cycle. The variable morphology was seen
particularly in cultured fibroblasts and in peripheral blood lymphocytes
undergoing blastic transformation induced by PHA, but was not
observed in buccal mucosa or hair root sheath cells.
The morphology of the
Y-body ranged from a highly condensed
configuration in small non-transformed nuclei to increased degrees
of dispersion which appeared to show direct relationship to size
of the transformed nucleus. In nuclei which appeared to be in
preprophase (G-2), the
Y-body appeared to partially recondense.
Lymphocyte cultures, which were serially harvested, showed an
increase in percent of nuclei with a dispersed
Y-body, proportional
to time in culture, and generally an increase in nuclear diameter.
Nuclei studied from serially cultured skin fibroblasts showed
the highest percent of nuclei with a dispersed
Y-body during the
log phase of cell growth, and a decline in the frequency of dispersed
morphology in the post-log phase. Percent dispersion also showed a
direct relationship to mitotic index.
Continuous terminal and pulse-labeling studies of the
Y-body
revealed increased incorporation of tritiated thymidine with
increased dispersion. The labeling studies suggested that the
observed morphological configurations were sequential, and that the
Y-body while condensed generally lagged in DNA-synthesis, but that
the rate of DNA-synthesis of the
Y-body was more rapid than the rest
of the nucleus as it became more dispersed.
The studies indicate that the different morphologies of the
Y-body
represent stages in the cell cycle, and suggest that portions
of the
Y-body may be uncoiling during the time it is actively
synthesizing DNA.
Advisors/Committee Members: Owczarzak, Alfred (advisor).
Subjects/Keywords: Y chromosome
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APA (6th Edition):
Wyandt, Herman Edwin, 1. (1971). Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography. (Doctoral Dissertation). Oregon State University. Retrieved from http://hdl.handle.net/1957/45432
Chicago Manual of Style (16th Edition):
Wyandt, Herman Edwin, 1939-. “Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography.” 1971. Doctoral Dissertation, Oregon State University. Accessed March 07, 2021.
http://hdl.handle.net/1957/45432.
MLA Handbook (7th Edition):
Wyandt, Herman Edwin, 1939-. “Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography.” 1971. Web. 07 Mar 2021.
Vancouver:
Wyandt, Herman Edwin 1. Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography. [Internet] [Doctoral dissertation]. Oregon State University; 1971. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/1957/45432.
Council of Science Editors:
Wyandt, Herman Edwin 1. Study of the human Y chromosome in the interphase nucleus by light microscopy, quinacrine fluoromicroscopy and autoradiography. [Doctoral Dissertation]. Oregon State University; 1971. Available from: http://hdl.handle.net/1957/45432
University of Melbourne
2.
Pertile, Mark Domenic.
Sequence structure and evolution of the mouse Y centromere.
Degree: 2013, University of Melbourne
URL: http://hdl.handle.net/11343/38032
► The centromere is a fundamental structure required for the faithful segregation of eukaryotic chromosomes during cell division. Despite this function being highly conserved, centromere sequences…
(more)
▼ The centromere is a fundamental structure required for the faithful segregation of eukaryotic chromosomes during cell division. Despite this function being highly conserved, centromere sequences evolve rapidly, and are frequently diverged between even closely related species. While the centromere sequences of many model multicellular eukaryotes are now well characterised, one centromere sequence, namely that of the mouse Y chromosome, has remained unidentified. This lack of sequence information has left a significant gap in our knowledge of centromere biology and chromosome evolution in this important mammalian model organism.
In mouse, the centromere sequence of all chromosomes except the Y chromosome consists of a highly conserved, tandemly repeated minor satellite DNA. Why the Y centromere should lack minor satellite DNA is unknown, but this observation suggests that the Y centromere DNA has evolved in relative isolation from the minor satellite sequence.
Here, a bioinformatics approach has been used to identify a putative Y centromere DNA that has led to the complete molecular characterisation of the C57BL/6J mouse Y centromere. This newly identified satellite DNA (Ymin) is composed of a complex, highly diverged minor satellite-like sequence that is organised as a 2.3 kb higher-order repeat (HOR) unit. The homogeneous HOR units are tandemly repeated across the core of the Y centromere array and are flanked by diverged multimeric and monomeric Ymin repeats. This sequence architecture is more reminiscent of the organisation of the human centromeres and is quite distinct from the minor satellite sequence organisation found at all other mouse centromeres. The complete characterisation of the C57BL/6J (M.m. molossinus) mouse Y centromere DNA has been facilitated by the entire 90 kb Ymin array being contained within a single, fully sequenced BAC clone; RP24-110P17.
The sequence conservation of the Ymin DNA was also investigated in other mouse strains. This led to the characterisation of a new, 1.6 kb HOR unit that is specific for the Y centromere of the subspecies M.m. domesticus. A comparative sequence analysis between the canonical HOR units from M.m. molossinus and M.m. domesticus mice indicates the Y centromere DNA is diverging at an accelerated rate, with major turnover of the HOR arrays driving rapid divergence of sequence and higher-order structure at the mouse Y centromere. A comparative sequence analysis of the human and chimpanzee centromeres indicates a similar rapid divergence for the primate Y centromere relative to other primate centromeres. Together, these data suggest that accelerated divergence of the Y centromere DNA may be a general feature of mammalian Y chromosome evolution. Somewhat paradoxically, an analysis of inbred mice transmitting the same Y chromosome over several hundred inbred generations provided no evidence for a change in Y centromere array length. This…
Subjects/Keywords: chromosome Y; centromere; mouse; evolution
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APA (6th Edition):
Pertile, M. D. (2013). Sequence structure and evolution of the mouse Y centromere. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/38032
Chicago Manual of Style (16th Edition):
Pertile, Mark Domenic. “Sequence structure and evolution of the mouse Y centromere.” 2013. Doctoral Dissertation, University of Melbourne. Accessed March 07, 2021.
http://hdl.handle.net/11343/38032.
MLA Handbook (7th Edition):
Pertile, Mark Domenic. “Sequence structure and evolution of the mouse Y centromere.” 2013. Web. 07 Mar 2021.
Vancouver:
Pertile MD. Sequence structure and evolution of the mouse Y centromere. [Internet] [Doctoral dissertation]. University of Melbourne; 2013. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/11343/38032.
Council of Science Editors:
Pertile MD. Sequence structure and evolution of the mouse Y centromere. [Doctoral Dissertation]. University of Melbourne; 2013. Available from: http://hdl.handle.net/11343/38032
3.
Mahoney, James Michael.
Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
.
Degree: 1973, Drake U
URL: http://hdl.handle.net/2092/998
► The problem. The screening of 507 residents of Woodward State Hospital-School for possible Y chromosome anomalies using a quinacrine mustard staining technique. This stain causes…
(more)
▼ The problem. The screening of 507 residents of Woodward State Hospital-School for possible Y chromosome anomalies using a quinacrine mustard staining technique. This stain causes a bright fluorescence in the distal region of the long arms of the Y chromosome, making it possible to identify the Y chromosome. Procedure. The resident population was sampled using a finger puncture and blood smear technique to obtain the lymphocyte cells. The cells were stained using quinacrine mustard and the cells were screened using a Zeiss Photomicroscope II equipped with fluorescent illumination equipment. Fifty lymphocytes per individual were investigated noting single Y chromosomes, duplex Y chromosomes and double Y chromosomes.
Findings. The resident population divided into 212 females and 295 males. The women showed no Y chromosome anomalies. In the male population, 290 were observed to have only Y chromosomes. In this group of 290, 11 individuals showed a very low Y chromosome count. Five of the males were noted as possible XYY individuals.
Conclusions. The female population, as might be expected, exhibited no Y anomalies and 279 of the 290 males were diagnosed as having only one Y chromosome. The other group of 11 males with low positive Y investigations and 5 possible XYY males that were identified in this study are now the objects of further research involving karyotype analysis.
Recommendations. The sampling process and staining technique proved to be successful for screening a large population. I would also suggest that before any decisions are made from a screening process such as this, that a karyotype analysis be completed.
Subjects/Keywords: Y chromosome;
Karyotypes;
Chromosome abnormalities
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APA (6th Edition):
Mahoney, J. M. (1973). Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
. (Thesis). Drake U. Retrieved from http://hdl.handle.net/2092/998
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Mahoney, James Michael. “Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
.” 1973. Thesis, Drake U. Accessed March 07, 2021.
http://hdl.handle.net/2092/998.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Mahoney, James Michael. “Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
.” 1973. Web. 07 Mar 2021.
Vancouver:
Mahoney JM. Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
. [Internet] [Thesis]. Drake U; 1973. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/2092/998.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Mahoney JM. Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
. [Thesis]. Drake U; 1973. Available from: http://hdl.handle.net/2092/998
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Texas A&M University
4.
Paria, Nandina.
Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome.
Degree: PhD, Biomedical Sciences, 2012, Texas A&M University
URL: http://hdl.handle.net/1969.1/ETD-TAMU-2009-08-7047
► The genetic component of mammalian male fertility is complex and involves thousands of genes. The majority of these genes are distributed on autosomes and the…
(more)
▼ The genetic component of mammalian male fertility is complex and involves
thousands of genes. The majority of these genes are distributed on autosomes and the X
chromosome, while a small number are located on the
Y chromosome. Human and
mouse studies demonstrate that the most critical
Y-linked male fertility genes are present
in multiple copies, show testis-specific expression and are different between species.
In the equine industry, where stallions are selected according to pedigrees and
athletic abilities but not for reproductive performance, reduced fertility of many breeding
stallions is a recognized problem. Therefore, the aim of the present research was to
acquire comprehensive information about the organization of the horse
Y chromosome
(ECAY), identify
Y-linked genes and investigate potential candidate genes regulating
stallion fertility.
To achieve theses goals, a direct cDNA (complementary DNA) selection
procedure was used to isolate
Y-linked genes from horse testes and 29
Y-specific genes
were identified. All 29 genes were mapped to ECAY and their sequences were used to further expand the existing map. Copy number analysis identified 15 multicopy genes of
which 9 were novel transcripts. Gene expression analysis on a panel of selected body
tissues showed that some ECAY genes are expressed exclusively in testes while others
show ubiquitous or intermediate expression. Quantitative Real-Time PCR using primers
for 9 testis-specific multicopy genes revealed 5 genes with statistically significant
differential expression in testis of normal fertile stallions and stallions with impaired
fertility. Gene copy number analysis showed that the average copy number of 4 such
genes was decreased in subfertile/infertile stallions compared to normal animals.
Taken together, this research generated the first comprehensive physical gene
map for the horse
Y chromosome and identified a number of candidate genes for stallion
fertility. The findings essentially expand our knowledge about
Y chromosome genes in
horses, open a new avenue for investigating the potential role of ECAY genes in stallion
fertility which contribute to the development of molecular tools for the assessment of
fertility in stallions.
Advisors/Committee Members: Raudsepp, Terje (advisor), Chowdhary, Bhanu P. (committee member), Murphy, William J. (committee member), Samollow, Paul B. (committee member), Varner, Dickson D. (committee member).
Subjects/Keywords: Y chromosome; Stallion fertility; candidate genes; horse
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APA (6th Edition):
Paria, N. (2012). Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome. (Doctoral Dissertation). Texas A&M University. Retrieved from http://hdl.handle.net/1969.1/ETD-TAMU-2009-08-7047
Chicago Manual of Style (16th Edition):
Paria, Nandina. “Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome.” 2012. Doctoral Dissertation, Texas A&M University. Accessed March 07, 2021.
http://hdl.handle.net/1969.1/ETD-TAMU-2009-08-7047.
MLA Handbook (7th Edition):
Paria, Nandina. “Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome.” 2012. Web. 07 Mar 2021.
Vancouver:
Paria N. Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome. [Internet] [Doctoral dissertation]. Texas A&M University; 2012. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/1969.1/ETD-TAMU-2009-08-7047.
Council of Science Editors:
Paria N. Discovery of Candidate Genes for Stallion Fertility from the Horse Y Chromosome. [Doctoral Dissertation]. Texas A&M University; 2012. Available from: http://hdl.handle.net/1969.1/ETD-TAMU-2009-08-7047
Penn State University
5.
Stopa, Natasha.
Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data.
Degree: 2020, Penn State University
URL: https://submit-etda.libraries.psu.edu/catalog/17798nzs208
► Despite the importance of the Y chromosome for male sex determination and other functions, it is understudied. Its haploid nature and high repeat content mean…
(more)
▼ Despite the importance of the
Y chromosome for male sex determination and other functions, it is understudied. Its haploid nature and high repeat content mean it is often excluded from assembly. Long read sequencing technologies such as a nanopore sequencing allow for the better resolution of long repetitive regions that make the assembly of the
Y chromosome so difficult. While assembly techniques of the
Y chromosome include single-haplotype iterative mapping and enrichment pre-assembly via flow sorting, whole genome sequencing and assembly is a more ubiquitous and accessible method of assembly. However, the assembly of the full genome is time and computationally expensive. We propose a method to identify nanopore reads that originate from the
Y chromosome so they can be assembled without a full genome assembly. We use features from the alignment of the reads and read overlap information to identify these reads. We achieved up to 86% recall with 82% precision for simulated data and up to 83% recall with 12% precision for real data.
Advisors/Committee Members: Paul Medvedev, Thesis Advisor/Co-Advisor, Chitaranjan Das, Program Head/Chair, Mingfu Shao, Committee Member.
Subjects/Keywords: Y chromosome female alignment bioinformatic algorithms genomics
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APA ·
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APA (6th Edition):
Stopa, N. (2020). Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/17798nzs208
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Stopa, Natasha. “Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data.” 2020. Thesis, Penn State University. Accessed March 07, 2021.
https://submit-etda.libraries.psu.edu/catalog/17798nzs208.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Stopa, Natasha. “Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data.” 2020. Web. 07 Mar 2021.
Vancouver:
Stopa N. Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data. [Internet] [Thesis]. Penn State University; 2020. [cited 2021 Mar 07].
Available from: https://submit-etda.libraries.psu.edu/catalog/17798nzs208.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Stopa N. Using Female Alignment Features to Identify Reads from the Y Chromosome in Whole Genome Sequencing with Nanopore Data. [Thesis]. Penn State University; 2020. Available from: https://submit-etda.libraries.psu.edu/catalog/17798nzs208
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
University of Minnesota
6.
Guo, Yue.
Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms.
Degree: MS, Animal Sciences, 2016, University of Minnesota
URL: http://hdl.handle.net/11299/183299
► The X degenerate region of the bovine male specific region of the Y chromosome (bMSY) harbors several single copy genes, these genes share high similarity…
(more)
▼ The X degenerate region of the bovine male specific region of the Y chromosome (bMSY) harbors several single copy genes, these genes share high similarity with homologous genes on the X chromosome (Chang et.al. 2012). Y chromosome genes were assumed to play an important role in maleness and spermatogenesis through the whole life of males. Understanding the function of MSY genes would provide an indication of their role in maleness and spermatogenesis and contribute to effect early age male selection in breeding programs. The purpose of this research was to obtain full sequence of these genes, identify their isoforms and expression patterns in male and female animals, through single molecule RNA sequencing and PCR amplification of gene sequences across 15 different tissues samples. Comparison to their human and mouse orthologues helped assess the structure and level of conservation of these genes. Our hypothesis is that the X-degenerate Y-encoded and X-encoded genes and their isoforms will exhibit expression variation between male and female across different tissues, and that the Y-encoded genes will have specific expression patterns in male tissues. The mRNA isoform sequence (Iso-Seq) (Pacific Bioscience, CA) information was used to identify transcripts from Domino in liver and testis and from his daughter Dominette in liver, muscle, thalamus, lung and adipose. This analysis identified one isoform for bZFY, six isoforms for bZFX; two isoforms for bUTY, five isoforms for bUTX; three isoforms for bUSP9Y, fourteen isoforms for bUSP9X; eight isoforms for bRPS4Y1, five isoforms for bRPS4X; four potential isoforms for bTBL1Y, three potential isoforms for bTBL1X and three isoforms for bPRKX. We identified sequence regions of low homology to develop specific priming sites targeting the PCR amplification of fragments for ZFY and ZFX, UTY and UTX, USP9Y and USP9X, and successfully separated their expression pattern across 15 different tissues in four new born Holstein males and females. Furthermore, the orthologous comparison of bovine genes/genomes to the human and mouse genomes were also analyzed. Results from this dissertation identified possible sex specific isoforms of bovine X-degenerate Y-encoded genes and its homolog X-chromosome genes, and it refined the database information for the mRNA sequence of those bovine genes. Moreover, it provided a comprehensive list of orthologous bovine X-degenerate Y-chromosome genes in other mammals, which provides a knowledge background to promote functional research for those X-degenerate gene in maleness. Further research needs to be focused on how expression of these genes at different developmental stages of males will regulate their male specific biological functions.
Subjects/Keywords: bovine; X-degenerate genes; Y chromosome
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APA ·
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APA (6th Edition):
Guo, Y. (2016). Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms. (Masters Thesis). University of Minnesota. Retrieved from http://hdl.handle.net/11299/183299
Chicago Manual of Style (16th Edition):
Guo, Yue. “Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms.” 2016. Masters Thesis, University of Minnesota. Accessed March 07, 2021.
http://hdl.handle.net/11299/183299.
MLA Handbook (7th Edition):
Guo, Yue. “Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms.” 2016. Web. 07 Mar 2021.
Vancouver:
Guo Y. Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms. [Internet] [Masters thesis]. University of Minnesota; 2016. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/11299/183299.
Council of Science Editors:
Guo Y. Characterization, annotation and expression patterns of bovine X-degenerate Y-chromosome genes UTY, ZFY, USP9Y, PRKY, RPS4Y, TBL1Y and their isoforms. [Masters Thesis]. University of Minnesota; 2016. Available from: http://hdl.handle.net/11299/183299
University of Arizona
7.
Tumonggor, Meryanne Kusnita.
Genetic Insights On The Human Colonization Of Indonesia
.
Degree: 2014, University of Arizona
URL: http://hdl.handle.net/10150/332827
► Indonesia, a vast archipelago nation and home to a wide range of cultural, linguistic and genetic diversity, has been a navel of intercultural and interregional…
(more)
▼ Indonesia, a vast archipelago nation and home to a wide range of cultural, linguistic and genetic diversity, has been a navel of intercultural and interregional interaction between the Asian and the Pacific worlds since prehistoric times. By analyzing the genetic profile of Indonesian people across the archipelago, this dissertation aims to elucidate the colonization history of Indonesia and to assess the effect of social practices on the Indonesian gene pool. Genetic diversity has revealed the complex settlement history of the Indonesian archipelago, starting from the initial colonization of Indonesia ~50 kya, multiple migrations by hunter-gatherers from mainland Asia during the Paleolithic era, followed by a major Neolithic expansion of Austronesian-speaking farmers from a putative homeland of Taiwan, and historic era migrations that involved several foreign invasions via trading and the spread of major religions. The survival of older lineages in western and eastern Indonesia showed that these later expansions into the archipelago did not replace the gene pool of the previous inhabitants. Although most Indonesian communities today practice patrilocality, which is supported by genetic diversity and population structure analyses, matrilineal descent systems are thought to have dominated ancestral Austronesian societies. Preserving a rich Austronesian cultural heritage, such as matrilocal marriage practices, has particularly affected the genetic diversity and population structure of Timor. The dominance of Asian female lineages is apparent on the X
chromosome compared to the autosomes, suggesting that female migrants played a leading role during the period of Asian immigration into Timor. Matrilocality may have been a driving force behind this admixture bias during the Austronesian expansion. This finding provides support for an Austronesian `house society' model in which the Austronesian expansion led to the dispersal of matrilocal societies with small numbers of neighboring non-Austronesian males marrying into Austronesian matrilocal, matrilineal houses. This study has revealed that the colonization history of Indonesia does not seem to comprise merely a Melanesian substratum with a single expansion of Austronesian speakers, yet rather involves multiple waves of human migration, coupled with an extensive admixture process.
Advisors/Committee Members: Lansing, John Stephen (advisor), Lansing, John Stephen (committeemember), Pike, Ivy L. (committeemember), Cox, Murray P, (committeemember), Raichlen, David A. (committeemember).
Subjects/Keywords: Indonesia;
mitochondrial DNA;
Y chromosome;
Anthropology;
Austronesian
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APA (6th Edition):
Tumonggor, M. K. (2014). Genetic Insights On The Human Colonization Of Indonesia
. (Doctoral Dissertation). University of Arizona. Retrieved from http://hdl.handle.net/10150/332827
Chicago Manual of Style (16th Edition):
Tumonggor, Meryanne Kusnita. “Genetic Insights On The Human Colonization Of Indonesia
.” 2014. Doctoral Dissertation, University of Arizona. Accessed March 07, 2021.
http://hdl.handle.net/10150/332827.
MLA Handbook (7th Edition):
Tumonggor, Meryanne Kusnita. “Genetic Insights On The Human Colonization Of Indonesia
.” 2014. Web. 07 Mar 2021.
Vancouver:
Tumonggor MK. Genetic Insights On The Human Colonization Of Indonesia
. [Internet] [Doctoral dissertation]. University of Arizona; 2014. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10150/332827.
Council of Science Editors:
Tumonggor MK. Genetic Insights On The Human Colonization Of Indonesia
. [Doctoral Dissertation]. University of Arizona; 2014. Available from: http://hdl.handle.net/10150/332827
University of Georgia
8.
Smith, Maren.
Senescence and the Y chromosome.
Degree: 2014, University of Georgia
URL: http://hdl.handle.net/10724/26157
► The Y chromosome is a non-recombining, patrilineal chromosome that is comprised of a few male specific genes, repetitive sequences, and transposable elements (Graves 2006). It…
(more)
▼ The Y chromosome is a non-recombining, patrilineal chromosome that is comprised of a few male specific genes, repetitive sequences, and transposable elements (Graves 2006). It is well known for its role in sex determination and male
fertility, but recent research revealed a new activity for the Y chromosome: control of gene expression on other chromosomes in the genome. In 2008 Benardo Lemos discovered that, in Drosophila melanogaster, polymorphisms on the Y chromosome have
differential effects on expression of autosomal and X-linked genes. Many of these genes are involved in pathways related to cellular stability and repair, which are mechanisms that have a role in the aging process. This led to the hypothesis that the Y
chromosome may have an influence on aging. To study this possibility we created an isogenic line of D. melanogaster, and introduced eighteen Y chromosomes to this line: nine from African populations and nine from North American populations. We measured
senescence in these flies by monitoring death rate over a 60 day period. We found significant variation in rate of aging in both male and female flies, hinting at the complex nature of studies of the aging process.
Subjects/Keywords: Senescence; Y chromosome; Drosophila melanogaster; aging
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APA (6th Edition):
Smith, M. (2014). Senescence and the Y chromosome. (Thesis). University of Georgia. Retrieved from http://hdl.handle.net/10724/26157
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Smith, Maren. “Senescence and the Y chromosome.” 2014. Thesis, University of Georgia. Accessed March 07, 2021.
http://hdl.handle.net/10724/26157.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Smith, Maren. “Senescence and the Y chromosome.” 2014. Web. 07 Mar 2021.
Vancouver:
Smith M. Senescence and the Y chromosome. [Internet] [Thesis]. University of Georgia; 2014. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10724/26157.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Smith M. Senescence and the Y chromosome. [Thesis]. University of Georgia; 2014. Available from: http://hdl.handle.net/10724/26157
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
University of Hong Kong
9.
廖俊凌.
Development of flow
cytometric method for analysis of X & Ychromosome.
Degree: 2005, University of Hong Kong
URL: http://hdl.handle.net/10722/131198
Subjects/Keywords: Y
chromosome.; X
chromosome.; Flow
cytometry.
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APA ·
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CSE |
Export
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Manager
APA (6th Edition):
廖俊凌.. (2005). Development of flow
cytometric method for analysis of X & Ychromosome. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/131198
Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
廖俊凌.. “Development of flow
cytometric method for analysis of X & Ychromosome.” 2005. Thesis, University of Hong Kong. Accessed March 07, 2021.
http://hdl.handle.net/10722/131198.
Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
廖俊凌.. “Development of flow
cytometric method for analysis of X & Ychromosome.” 2005. Web. 07 Mar 2021.
Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Vancouver:
廖俊凌.. Development of flow
cytometric method for analysis of X & Ychromosome. [Internet] [Thesis]. University of Hong Kong; 2005. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10722/131198.
Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
廖俊凌.. Development of flow
cytometric method for analysis of X & Ychromosome. [Thesis]. University of Hong Kong; 2005. Available from: http://hdl.handle.net/10722/131198
Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Not specified: Masters Thesis or Doctoral Dissertation
10.
Vaz, Suzana Casaccia.
Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y.
Degree: PhD, Biologia (Genética), 2014, University of São Paulo
URL: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09032015-073910/
;
► A análise do conteúdo gênico do cromossomo Y em 12 espécies de Drosophila com genoma sequenciado em 2008 mostrou que o Y é pouco conservado…
(more)
▼ A análise do conteúdo gênico do cromossomo Y em 12 espécies de Drosophila com genoma sequenciado em 2008 mostrou que o Y é pouco conservado entre espécies e está em processo de aquisição de genes, o que contradiz o modelo atual de evolução de cromossomos sexuais que o descreve como um homólogo degenerado do X, com constante perda de genes. Este resultado inicial incitou o estudo espécies adicionais de Drosophila e de gêneros próximos. Uma dificuldade relevante para obtenção de espécimes é que muitos grupos taxonômicos de drosofilídeos não estão disponíveis nos “stock-centers”, e seus hábitos de vida são pouco conhecidos. Muitas espécies são encontradas na natureza associadas a fungos, flores, ou exsudados vegetais, e raramente são atraídas por isca com banana fermentada, que é o método usual de coleta de drosofilídeos. Os objetivos do presente trabalho foram: I) analisar o conteúdo gênico do cromossomo Y de drosofilídeos provenientes de substratos “não usuais”, II) determinar substratos de desenvolvimento larval e identificar espécies novas, e III) analisar a composição de bases de genes no Y. Os resultados revelam a natureza dinâmica de aquisição e perdas de genes do cromossomo Y na família Drosophilidae que, em poucos casos, inclui um movimento de todo o cromossomo (p.e., fusão do Y a um autossomo). Descrevemos uma nova espécie, Drosophila calatheae, cuja larva se desenvolve em flores do gênero Calathea (Marantaceae). Uma segunda espécie, provisoriamente codificada como Drosophila I4, e cujas larvas também se desenvolvem nessas flores, está em fase de descrição. A partir de análise morfológica, nenhuma dessas duas espécies pôde ser incluídas em algum dos grupos de espécies conhecidos. Uma filogenia molecular preliminar com dois genes do cromossomo Y (kl-3 and kl-5) sugere que ambas pertencem à radiação virilis-repleta e que D. calatheae tem relações (morfológicas e moleculares) com as espécies do grupo bromeliae. A análise do conteúdo GC de genes no Y mostrou que genes neste cromossomo são enriquecidos em AT em relação a genes autossômicos, e esta diferença na composição de bases é proporcional ao tempo que um gene está presente no Y. Portanto, o conteúdo GC pode servir como ferramenta no estudo da evolução do cromossomo Y ao determinar o estado ancestral de um gene (autossômico vs. ligado ao Y) e datar o movimento de genes entre esses dois compartimentos genômicos
The analyses of the Y chromosome gene content in 12 Drosophila species whose genome were sequenced in 2008 showed that the Y is not well conserved among species and is currently in the process of acquiring genes, contradicting the current model of sex chromosome evolution that describes the Y as a degenerate homolog of the X, in constant gene loss. This initial result prompted the study of additional Drosophila species and related genera. One of the difficulties in obtaining specimens is the fact that drosophilids from many taxonomic groups are not available in stock- centers and little is known about their ecology. Many…
Advisors/Committee Members: Carvalho, Antonio Bernardo de, Vilela, Carlos Ribeiro.
Subjects/Keywords: Breeding sites; Cromossomo Y; Drosofilídeos; Drosophilids; Sítios de desenvolvimento; Y-chromosome
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APA ·
Chicago ·
MLA ·
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CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Vaz, S. C. (2014). Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y. (Doctoral Dissertation). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09032015-073910/ ;
Chicago Manual of Style (16th Edition):
Vaz, Suzana Casaccia. “Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y.” 2014. Doctoral Dissertation, University of São Paulo. Accessed March 07, 2021.
http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09032015-073910/ ;.
MLA Handbook (7th Edition):
Vaz, Suzana Casaccia. “Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y.” 2014. Web. 07 Mar 2021.
Vancouver:
Vaz SC. Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y. [Internet] [Doctoral dissertation]. University of São Paulo; 2014. [cited 2021 Mar 07].
Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09032015-073910/ ;.
Council of Science Editors:
Vaz SC. Drosofilídeos (Diptera) associados a flores e fungos da mata atlântica: identificação de novas espécies e evolução do cromossomo Y. [Doctoral Dissertation]. University of São Paulo; 2014. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09032015-073910/ ;
Florida International University
11.
Gayden, Tenzin.
Genetic Diversity in the Himalayan Populations of Nepal and Tibet.
Degree: PhD, Biology, 2012, Florida International University
URL: https://digitalcommons.fiu.edu/etd/580
;
10.25148/etd.FI12042312
;
FI12042312
► The Himalayan Mountain range encompasses an unparalleled landscape featuring some of the planet’s highest peaks, including Mount Everest. In the heart of this massive…
(more)
▼ The Himalayan Mountain range encompasses an unparalleled landscape featuring some of the planet’s highest peaks, including Mount Everest. In the heart of this massive orographic barrier lies Nepal, sandwiched in the historically geostrategic position between the Tibetan plateau to the north and India in the south. Until recently, Nepalese and Tibetan populations remained poorly characterized genetically, partly because of their inaccessible geographical locations. In the present study, the genetic diversity of these two Himalayan populations is evaluated using different marker systems, including mitochondrial DNA (mtDNA) and Short Tandem Repeats (STRs) in the autosomes as well as on the
Y-
chromosome (
Y-STR). While autosomal STRs are distributed throughout the genome and are biparentally inherited, the
Y-
chromosome and mtDNA are haploid markers and provide the paternal and maternal histories of the population, respectively. Fifteen autosomal STR loci were typed in 341 unrelated individuals from three Nepalese populations (188), namely Tamang (45), Newar (66) and Kathmandu (77), and a general collection from Tibet (153). These samples were also sequenced for the mtDNA control region and all of them were subsequently assigned to 75 different mtDNA haplogroups and sub-haplogroups by screening their diagnostic sites in the coding region using Restriction Fragment Length Polymorphism analysis and/or sequencing, thus achieving an unprecedented level of resolution. The results from the autosomal and mtDNA data suggest a Northeast Asian origin for the Himalayan populations, with significant genetic influence from the Indian subcontinent in Kathmandu and Newar, corroborating our previous
Y-
chromosome study. In contrast, Tibet displays a limited Indian component, suggesting that the Himalayan massif acted as a natural barrier for gene flow from the south. The presence of ancient Indian mtDNA lineages in Nepal implies that the region may have been inhabited by the earliest settlers who initially populated South Asia. In addition, seventeen
Y-STR loci were analyzed in 350 Tibetan males from three culturally defined regions of historical Tibet: Amdo (88), Kham (109) and U-Tsang (153). The results demonstrate that the 17
Y-STR loci studied are highly polymorphic in all the three Tibetan populations examined and hence are useful for forensic cases, paternity testing and population genetic studies.
Advisors/Committee Members: Rene J. Herrera, George T. Duncan, DeEtta K. Mills, Bruce R. McCord, Timothy M. Collins.
Subjects/Keywords: Himalayas; Nepal; Tibet; Y-chromosome; mtDNA; Y-STR; Autosomal STR
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APA (6th Edition):
Gayden, T. (2012). Genetic Diversity in the Himalayan Populations of Nepal and Tibet. (Doctoral Dissertation). Florida International University. Retrieved from https://digitalcommons.fiu.edu/etd/580 ; 10.25148/etd.FI12042312 ; FI12042312
Chicago Manual of Style (16th Edition):
Gayden, Tenzin. “Genetic Diversity in the Himalayan Populations of Nepal and Tibet.” 2012. Doctoral Dissertation, Florida International University. Accessed March 07, 2021.
https://digitalcommons.fiu.edu/etd/580 ; 10.25148/etd.FI12042312 ; FI12042312.
MLA Handbook (7th Edition):
Gayden, Tenzin. “Genetic Diversity in the Himalayan Populations of Nepal and Tibet.” 2012. Web. 07 Mar 2021.
Vancouver:
Gayden T. Genetic Diversity in the Himalayan Populations of Nepal and Tibet. [Internet] [Doctoral dissertation]. Florida International University; 2012. [cited 2021 Mar 07].
Available from: https://digitalcommons.fiu.edu/etd/580 ; 10.25148/etd.FI12042312 ; FI12042312.
Council of Science Editors:
Gayden T. Genetic Diversity in the Himalayan Populations of Nepal and Tibet. [Doctoral Dissertation]. Florida International University; 2012. Available from: https://digitalcommons.fiu.edu/etd/580 ; 10.25148/etd.FI12042312 ; FI12042312
12.
Kusuma, Pradiptajati.
In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie.
Degree: Docteur es, Anthropobiologie, 2017, Université Toulouse III – Paul Sabatier
URL: http://www.theses.fr/2017TOU30109
► L'Indonésie a été l'objet de la dispersion Austronésienne qui a débuté il y a environ 5000 ans depuis Taiwan, se propager à travers les Philippines…
(more)
▼ L'Indonésie a été l'objet de la dispersion Austronésienne qui a débuté il y a environ 5000 ans depuis Taiwan, se propager à travers les Philippines et l'Indonésie, puis toucher l'Océanie à l'est, et à Madagascar à l'ouest. Malgré de nombreuses recherches en génétique sur la dispersion Austronésienne vers l'est, il y a très peu de données sur la dispersion vers l'ouest, laissant sans réponse de nombreuses questions, liées notamment au peuplement de Madagascar. Reposant sur l'analyse des données culturelles et biologiques, les populations d'Indonésie semblent avoir joué un rôle majeur dans la colonisation de Madagascar, le premier millénaire de notre ère. Cependant, le peu de populations Indonésiennes étudiées à ce jour n'a pas permis jusqu'à présent d'identifier la population indonésienne source. Dans ce présent travail, j'ai réalisé des études en génétique des populations de 12 populations Indonésiennes, qui à priori devraient éclairer l'histoire des migrations austronésiennes dans l'Océan Indien. Parmi elles sont inclus le Ma'anyan du sud-est de Bornéo qui sont les plus proches linguistiquement des Malgaches. En utilisant différents marqueurs génétiques, ma recherche a amélioré nos connaissances de la diversité génétique Indonésienne, et du lien génétique entre l'Indonésie et Madagascar. Résultats L'analyse des marqueurs uniparentaux (chr-Y et ADNmt) suggère que les Malgaches proviennent de plusieurs régions d'Indonésie, avec un lien privilégié avec le sud-est de Bornéo, le sud de Sulawesi et les îles de la Sonde. Etonnamment, les Ma'anyan partagent un nombre limité de lignées paternelles et maternelles avec les Malgaches, malgré leur proximité linguistique. Par ailleurs, en combinant l'analyse de fréquences des SNPs et l'analyse haplotypique à partir des données autosomales, il a été confirmé que la diversité génétique des Ma'anyan ne correspond pas à l'ancestralité asiatique des Malgaches. Cependant, en centrant l'analyse sur les populations du sud-est de Bornéo, l'origine de l'ancestralité asiatique des Malgaches est ancrée dans la population Banjar, un mélange de population Ma'anyan et Malaise, résultat des activités commerciales de l'empire Malais dans le sud-est de Bornéo, qui se sont poursuivies à travers l'océan Indien. Par ailleurs nos résultats ont aussi permis d'accroitre notre compréhension de la diversité génétique de l'Indonésie en identifiant (1) une nouvelle composante génétique austronésienne présente chez les Ma'anyan, et retrouvée à faible fréquence à travers l'Asie du Sud-Est, suggérant une plus grande complexité du modèle d'expansion austronésien dans la région et (2) le rôle joué par les nomades de la mer dans la structuration de la diversité génétique et les échanges entre populations dans l'Indonésie, soulignant l'histoire génétique complexe de populations suivant un mode de vie nomade.
Indonesia hosts a wide range of linguistic, ethnic and genetic diversity, comprising ~600 ethnic groups and 700 living languages. Indonesia has facilitated the last substantial wave of human migration was…
Advisors/Committee Members: Ricaut, Francois-Xavier (thesis director), Letellier, Thierry (thesis director).
Subjects/Keywords: Indonésie; Malgache; Migration; ADNmt; Chromosome Y; SNP génome; Indonesia; Malagasy; Migration; MtDNA; Y-chromosome; Genome-wide SNP
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APA ·
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Export
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APA (6th Edition):
Kusuma, P. (2017). In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie. (Doctoral Dissertation). Université Toulouse III – Paul Sabatier. Retrieved from http://www.theses.fr/2017TOU30109
Chicago Manual of Style (16th Edition):
Kusuma, Pradiptajati. “In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie.” 2017. Doctoral Dissertation, Université Toulouse III – Paul Sabatier. Accessed March 07, 2021.
http://www.theses.fr/2017TOU30109.
MLA Handbook (7th Edition):
Kusuma, Pradiptajati. “In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie.” 2017. Web. 07 Mar 2021.
Vancouver:
Kusuma P. In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie. [Internet] [Doctoral dissertation]. Université Toulouse III – Paul Sabatier; 2017. [cited 2021 Mar 07].
Available from: http://www.theses.fr/2017TOU30109.
Council of Science Editors:
Kusuma P. In search of Asian Malagasy ancestors in Indonesia : A la recherche des ancestres asiatiques des malgaches en Indonésie. [Doctoral Dissertation]. Université Toulouse III – Paul Sabatier; 2017. Available from: http://www.theses.fr/2017TOU30109
Florida International University
13.
Chennakrishnaiah, Shilpa.
Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India.
Degree: Forensic Science, 2011, Florida International University
URL: https://digitalcommons.fiu.edu/etd/423
;
10.25148/etd.FI11072506
;
FI11072506
► Archaeological and genetic evidence have long supported the notion that the Indian subcontinent played an important role in the dispersal of modern humans out…
(more)
▼ Archaeological and genetic evidence have long supported the notion that the Indian subcontinent played an important role in the dispersal of modern humans out of Africa. In the present study, two Dravidian populations, namely Lingayat (N=101) and Vokkaliga (N=102) were examined using high-resolution analyses of
Y-
chromosome single nucleotide polymorphism (
Y-SNP) and their associated seventeen short tandem repeat (STR) loci. The results revealed a prevalence of the major indigenous Indian
Y-haplogroups (H, L, F* and R2), which collectively accounted for three-fourths of the Lingayat and Vokkaliga paternal gene pool. In addition, the presence of ancient lineages such as F*-M213, H*-M69 and C*-M216 suggested that modern humans reached India very early after their migration out of Africa. Finally, high haplotype diversity values at 17
Y-STR loci for Lingayat (0.9981) and Vokkaliga (0.9901) populations as well as the absence of shared haplotypes between them emphasized the importance of independent databases for forensic casework.
Advisors/Committee Members: DeEtta K. Mills, DeEtta K. Mills, Bruce R. McCord, Rene J. Herrera.
Subjects/Keywords: Lingayat; Vokkaliga; Dravidian language; Y-chromosome; Y-SNP; Y-STR; diversity; phylogenetic analyses; southern India.
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APA ·
Chicago ·
MLA ·
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CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Chennakrishnaiah, S. (2011). Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India. (Thesis). Florida International University. Retrieved from https://digitalcommons.fiu.edu/etd/423 ; 10.25148/etd.FI11072506 ; FI11072506
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Chennakrishnaiah, Shilpa. “Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India.” 2011. Thesis, Florida International University. Accessed March 07, 2021.
https://digitalcommons.fiu.edu/etd/423 ; 10.25148/etd.FI11072506 ; FI11072506.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Chennakrishnaiah, Shilpa. “Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India.” 2011. Web. 07 Mar 2021.
Vancouver:
Chennakrishnaiah S. Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India. [Internet] [Thesis]. Florida International University; 2011. [cited 2021 Mar 07].
Available from: https://digitalcommons.fiu.edu/etd/423 ; 10.25148/etd.FI11072506 ; FI11072506.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Chennakrishnaiah S. Analysis of Y-chromosome Diversity in Lingayat and Vokkaliga Populations of Southern India. [Thesis]. Florida International University; 2011. Available from: https://digitalcommons.fiu.edu/etd/423 ; 10.25148/etd.FI11072506 ; FI11072506
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
University of Alberta
14.
Moussa, Nour M.
Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal.
Degree: PhD, Medical Sciences-Laboratory Medicine and
Pathology, 2015, University of Alberta
URL: https://era.library.ualberta.ca/files/wm117r51m
► The study of Ancient DNA (aDNA), DNA recovered from archaeological and historic post mortem material, has complemented the study of anthropology and archaeology. There are…
(more)
▼ The study of Ancient DNA (aDNA), DNA recovered from
archaeological and historic post mortem material, has complemented
the study of anthropology and archaeology. There are several
challenges in the retrieval and analysis of DNA from ancient
specimens including exogenous contamination with modern DNA,
polymerase chain reaction (PCR) inhibitors and DNA damage because
of environmental factors. Despite all the obstacles, the extraction
of aDNA is still possible through reliable extraction methods and
highly sensitive PCR-based technologies that facilitated the use of
aDNA analysis in revealing the maternal and paternal backgrounds of
ancient populations. This dissertation examines prehistoric
hunter-gatherer populations that inhabited Siberia, Russia, several
thousand years ago. The Lake Baikal of Siberia was home to two
temporally distinct populations from Early Neolithic, EN (8000-6800
cal BP) to Late Neolithic-Early Bronze Age, LN-EBA (5800-4000 cal
BP). The EN group was separated from the LN-EBA group by a
1000-year gap (hiatus). Several cemeteries have been excavated as
part of an international Baikal Archaeology Project (BAP). These
include one EN cemetery (Shamanka II) and two LN-EBA cemeteries
(Kurma XI and Khuzhir-Nuge XIV). Maternally inherited mitochondrial
DNA (mtDNA) has been examined previously for two EN cemeteries
(Lokomotiv and Shamanka II) and one of the LN-EBA cemeteries
(Ust’-Ida). mtDNA has not been analyzed before from the Kurma XI
cemetery. This dissertation hypothesis focused on the examination
of mtDNA from Shamanka II and Kurma XI cemeteries and examination
of Y-chromosomal DNA from the four excavated cemeteries (Lokomotiv,
Shamanka II, Ust’-Ida and Kurma XI) to identify genetic
discontinuity and/or continuity between and within the EN and
LN-EBA of prehistoric populations. The project aims were; first,
modification of published methods for sample preparation, DNA
extraction and PCR amplification for aDNA research. Second,
interpretation of mtDNA haplogroup distribution from Kurma XI in
the context of other Lake Baikal cemeteries. Third, compare the
genetic affinities of the prehistoric populations with the
contemporary populations of the area through the maternal lineage.
Finally, comprison of mtDNA and Y-chromosomal haplogroup
distributions to determine maternal and paternal genetic
affinities. Four different mtDNA haplogroups were found in Kurma XI
individuals including A, D, F and Z. mtDNA haplogroup Z was not
represented before in Lake Baikal’s prehistoric populations. In
addition, six extra samples from Shamanka II were analyzed to
reveal that Shamanka II and Lokomotiv did not share the same
maternal background as was previously suggested. New mtDNA results
from Kurma XI and Shamanka II suggested that each of the EN
cemeteries and LN-EBA cemeteries had a different maternal origin;
however, Kurma XI shared a similar maternal origin with Lokomotiv
and also with Shamanka II. Through SNaPshot multiplex PCR
amplification, Y-chromosomal haplogroups were obtained from male
individuals in the four…
Subjects/Keywords: Prehistoric Siberian Populations; mtDNA and Y-chromosome; Ancient DNA
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Moussa, N. M. (2015). Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal. (Doctoral Dissertation). University of Alberta. Retrieved from https://era.library.ualberta.ca/files/wm117r51m
Chicago Manual of Style (16th Edition):
Moussa, Nour M. “Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal.” 2015. Doctoral Dissertation, University of Alberta. Accessed March 07, 2021.
https://era.library.ualberta.ca/files/wm117r51m.
MLA Handbook (7th Edition):
Moussa, Nour M. “Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal.” 2015. Web. 07 Mar 2021.
Vancouver:
Moussa NM. Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal. [Internet] [Doctoral dissertation]. University of Alberta; 2015. [cited 2021 Mar 07].
Available from: https://era.library.ualberta.ca/files/wm117r51m.
Council of Science Editors:
Moussa NM. Maternal and Paternal Polymorphisms in Prehistoric Siberian
Populations of Lake Baikal. [Doctoral Dissertation]. University of Alberta; 2015. Available from: https://era.library.ualberta.ca/files/wm117r51m
Temple University
15.
Latham, Krista Erin.
Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers.
Degree: PhD, 2008, Temple University
URL: http://digital.library.temple.edu/u?/p245801coll10,5736
► Anthropology
The South Pacific is a region of incredible biological, cultural and linguistic diversity, reflecting its early settlement by human populations. It has been a…
(more)
▼ Anthropology
The South Pacific is a region of incredible biological, cultural and linguistic diversity, reflecting its early settlement by human populations. It has been a region of interest to scholars because of this diversity, as well as its unique geography and settlement history. Current evidence suggests there was an initial settlement of Near Oceania during the Pleistocene by Papuan-speaking foragers, followed by a later Holocene settlement of Remote Oceania by Oceanic-speaking agriculturalists. Previous studies of human biological variation have been used to illuminate the migration history of and population relationships within Oceania. In this study, I analyzed Y-chromosome (NRY) diversity in 842 unrelated males to more fully characterize the phylogeography of paternal genetic lineages in this region, using a large number of regionally informative markers on an intensive sample set from Northern Island Melanesia. This approach facilitated an analysis of NRY haplogroup distributions, an evaluation of the ancestral paternal genetic contribution to the region, and a comparison of regional NRY diversity with that observed at different genetic loci (e.g., mtDNA). This project is part of a collaborative effort by faculty and graduate students from the Temple University Department of Anthropology that focused on characterizing biological variation and genetic structure in Melanesia, and better resolving the phylogeographic specificity of Northern Island Melanesia. Overall, this study generated a higher resolution view of NRY haplogroup variation than detected in previous studies through the use of newly defined and very informative SNP markers. It also showed that there is a very small ancestral East Asian paternal contribution to this area, and a rather large proportion of older Melanesian NRY lineages present there. In addition, this study observed extraordinary NRY diversity within Northern Island Melanesia, as well as genetic structure influenced more by geography than linguistic variation. This structure and diversity was essentially equivalent to that noted for mtDNA data for this region. Finally, this study helped to resolve questions about the placement of the 50f2/c deletion within the larger NRY tree. Overall, this work has refined our understanding of the migration and demographic history of Northern Island Melanesia.
Temple University – Theses
Advisors/Committee Members: Friedlaender, Jonathan Scott, Lorenz, Joseph G., Weitz, Charles A., Greenfield, Leonard, Schurr, Theodore G. (Theodore George).
Subjects/Keywords: Anthropology, Physical; Y-Chromosome; NRY; South Pacific; Melanesia; Population Genetics
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APA (6th Edition):
Latham, K. E. (2008). Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers. (Doctoral Dissertation). Temple University. Retrieved from http://digital.library.temple.edu/u?/p245801coll10,5736
Chicago Manual of Style (16th Edition):
Latham, Krista Erin. “Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers.” 2008. Doctoral Dissertation, Temple University. Accessed March 07, 2021.
http://digital.library.temple.edu/u?/p245801coll10,5736.
MLA Handbook (7th Edition):
Latham, Krista Erin. “Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers.” 2008. Web. 07 Mar 2021.
Vancouver:
Latham KE. Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers. [Internet] [Doctoral dissertation]. Temple University; 2008. [cited 2021 Mar 07].
Available from: http://digital.library.temple.edu/u?/p245801coll10,5736.
Council of Science Editors:
Latham KE. Assessing Y-Chromosome Variation in the South Pacific Using Newly Detected NRY Markers. [Doctoral Dissertation]. Temple University; 2008. Available from: http://digital.library.temple.edu/u?/p245801coll10,5736
McMaster University
16.
Ghenu, Ana-Hermina.
Multicopy gene family evolution on primate Y chromosomes.
Degree: MSc, 2015, McMaster University
URL: http://hdl.handle.net/11375/18277
► Unlike the autosomes, the Y chromosome in humans and other primates has few protein coding genes, with only a few dozen single-copy genes and several…
(more)
▼ Unlike the autosomes, the Y chromosome in humans and other primates has few protein coding genes, with only a few dozen single-copy genes and several tandem duplicated gene families, called the "ampliconic" genes. The interaction of many biological and evolutionary factors is responsible for this structural heterogeneity among different parts of the genome.
We sequenced and assayed the copy numbers of Y-linked, single-copy genes and ampliconic genes in a group of closely related macaque monkeys, then fit models of gene family evolution to this data along with whole genome data from human, chimpanzee, and rhesus macaque. Our results (i) recovered evidence for several novel examples of gene conversion in papionin monkeys, (ii) indicate that ampliconic gene families evolve faster than autosomal gene families and than single-copy genes on the Y chromosome, and that (iii) Y-linked singleton and autosomal gene families evolved faster in great apes than they do in other Old World higher Primates.
These findings highlight the evolutionary eccentricity of duplicated genes on the Y chromosome and suggest an important role for natural selection and gene conversion in the evolution of Y-linked gene duplicates.
Thesis
Master of Science (MSc)
Advisors/Committee Members: Evans, Ben, Biology.
Subjects/Keywords: Y chromosome; gene copy number evolution; Old World Primates; genome structure
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APA (6th Edition):
Ghenu, A. (2015). Multicopy gene family evolution on primate Y chromosomes. (Masters Thesis). McMaster University. Retrieved from http://hdl.handle.net/11375/18277
Chicago Manual of Style (16th Edition):
Ghenu, Ana-Hermina. “Multicopy gene family evolution on primate Y chromosomes.” 2015. Masters Thesis, McMaster University. Accessed March 07, 2021.
http://hdl.handle.net/11375/18277.
MLA Handbook (7th Edition):
Ghenu, Ana-Hermina. “Multicopy gene family evolution on primate Y chromosomes.” 2015. Web. 07 Mar 2021.
Vancouver:
Ghenu A. Multicopy gene family evolution on primate Y chromosomes. [Internet] [Masters thesis]. McMaster University; 2015. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/11375/18277.
Council of Science Editors:
Ghenu A. Multicopy gene family evolution on primate Y chromosomes. [Masters Thesis]. McMaster University; 2015. Available from: http://hdl.handle.net/11375/18277
Penn State University
17.
Rangavittal, Samarth.
ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES.
Degree: 2019, Penn State University
URL: https://submit-etda.libraries.psu.edu/catalog/15948szr165
► Significance: Elucidating the structure and content of the Y chromosome in primates is important for understanding human sex determination, male fertility, and ancestry. Among the…
(more)
▼ Significance: Elucidating the structure and content of the
Y chromosome in primates is important for understanding human sex determination, male fertility, and ancestry. Among the great apes, only the human and chimpanzee
Y chromosomes have been sequenced and assembled - both using laborious and expensive techniques. Further, across the available mammalian reference genomes, less than one in five references include a sequenced
Y chromosome, at varying percentages of completion. This paucity of sequenced
Y chromosomes can be overcome by leveraging fast and cost-effective Next-Generation-Sequencing-based methods. Draft
Y chromosomes generated by such a strategy may then be analyzed to further understand variation between species. In this dissertation, I develop and apply novel computational methods for assembly of great ape
Y chromosomes (Chapters 2 and 3) and discuss the use of these methods to generate a de novo assembly of the
Y chromosome of gorilla (Chapter 4).
Specifically, this dissertation addresses the following questions :
1. How can we assemble a
Y chromosome from enriched sequencing datasets? I developed a method called RecoverY that leverages k-mer abundance to classify sequencing reads as
Y-linked. K-mers originating from
Y-specific reads occur at a higher abundance than k-mers originating from non-
Y reads as a consequence of the enrichment process. Reads composed of mostly high-abundance k-mers are thus selected as
Y-specific and are subsequently assembled using existing short-read assemblers.
2. How do we isolate
Y-linked contigs from non-enriched sequencing datasets? I developed a method called DiscoverY to isolate
Y-contigs from male whole-genome assemblies of non-enriched DNA. This method uses depth of coverage from male reads and proportion of k-mers shared with a female reference to inform a machine learning model which classifies contigs as
Y-linked. Those contigs which have a low depth of coverage from male reads and low proportion sharing with female are shortlisted as
Y-contigs, while the remaining contigs are filtered out as likely autosomal or X-chromosomal contigs. This method has the advantage of being sequencing-platform agnostic, and does not require laborious, specialized enrichment techniques.
3. What can we say about the
Y chromosome of gorilla compared to other great apes? Applying the RecoverY method for enriched datasets, I assembled a draft gorilla
Y chromosome using Illumina short reads. By further improving this assembly using a hybrid approach of adding PacBio long reads, my colleagues and I were able to demonstrate that the gorilla
Y shares multiple features to a greater degree with human
Y than with chimpanzee
Y, such as alignable sequence length, gene presence, gene copy number, interspersed repetitive element content and number of palindromes.
Broadly, results from this dissertation are relevant to understanding the structure and content of great ape
Y chromosomes – thus enabling a comparative genomic analysis across these
Y chromosomes. Further, the freely…
Advisors/Committee Members: Kateryna Dmytrivna Makova, Dissertation Advisor/Co-Advisor, Kateryna Dmytrivna Makova, Committee Chair/Co-Chair, Raquel Assis, Committee Member, Wansheng Liu, Committee Member, Paul Medvedev, Outside Member.
Subjects/Keywords: genome assembly; great ape; Y chromosome; k-mers
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APA ·
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MLA ·
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CSE |
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to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Rangavittal, S. (2019). ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/15948szr165
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Rangavittal, Samarth. “ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES.” 2019. Thesis, Penn State University. Accessed March 07, 2021.
https://submit-etda.libraries.psu.edu/catalog/15948szr165.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Rangavittal, Samarth. “ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES.” 2019. Web. 07 Mar 2021.
Vancouver:
Rangavittal S. ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES. [Internet] [Thesis]. Penn State University; 2019. [cited 2021 Mar 07].
Available from: https://submit-etda.libraries.psu.edu/catalog/15948szr165.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Rangavittal S. ASSEMBLY AND ANALYSIS OF GREAT APE Y CHROMOSOMES. [Thesis]. Penn State University; 2019. Available from: https://submit-etda.libraries.psu.edu/catalog/15948szr165
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Penn State University
18.
Vegesna, Rahulsimham.
Evolution of Y chromosome ampliconic genes in great apes.
Degree: 2020, Penn State University
URL: https://submit-etda.libraries.psu.edu/catalog/17460rxv923
► In addition to the sex-determining gene SRY and several other single-copy genes, the human Y chromosome harbors nine multi-copy gene families which are expressed exclusively…
(more)
▼ In addition to the sex-determining gene SRY and several other single-copy genes, the human
Y chromosome harbors nine multi-copy gene families which are expressed exclusively in testis. In humans, these gene families are important for spermatogenesis and their loss is observed in patients suffering from infertility. However, only five of the nine ampliconic gene families are found across great apes, while others are missing or pseudogenized in some species. My research goal is to understand the evolution of the
Y ampliconic gene families in humans and in non-human great ape species. The specific objectives I addressed in this dissertation are
1. To test whether
Y ampliconic gene expression levels depend on their copy number and whether there is a gene dosage compensation to counteract the ampliconic gene copy number variation observed in humans.
For the nine ampliconic gene families found in humans, the copy number and expression levels were estimated in 149 men. Among the
Y ampliconic gene families, higher copy number leads to higher expression. Within the
Y ampliconic gene families, copy number does not influence gene expression, rather a high tolerance for variation in gene expression was observed in testis of presumably healthy men. We also found that expression of five
Y ampliconic gene families is coordinated with that of their non-
Y (i.e. X or autosomal) homologs. Indeed, five ampliconic gene families had consistently lower expression levels when compared to their non-
Y homologs suggesting dosage regulation, while the HSFY family had higher expression levels than its X homolog and thus lacked dosage regulation.
2. To test whether the
Y ampliconic gene copy number and gene expression levels are conserved across great apes.
For the ampliconic gene families found in great apes, the copy number and expression levels were estimated in independent datasets ranging from two to 14 samples per species. Our results indicate high variability in gene family size but conservation in gene expression levels in
Y ampliconic gene families. This relationship was similar to what was observed in humans. However, for three gene families, size was positively correlated with gene expression levels across species, suggesting that, given sufficient evolutionary time, copy number influences gene expression on the
Y chromosome.
3. To study the dynamics of gene (and gene family) loss and gain in great ape
Y chromosomes. Given the assemblies and alignments of great ape
Y chromosomes, we determined the gene content on the
Y chromosome of bonobo and orangutan. We then reconstructed the evolutionary history of gene content across great apes to observe that there was an increased rate of loss of genes in Pan genus (bonobo and chimpanzee) when compared to other great apes. The human palindromes P6 and P7 which are void of known ampliconic genes are conserved across great apes. The potential reason for their conservation is presence of possible gene expression regulators and not genes on these palindromes.
The results of this…
Advisors/Committee Members: Paul Medvedev, Dissertation Advisor/Co-Advisor, Paul Medvedev, Committee Chair/Co-Chair, Michael DeGiorgio, Outside Member, Wansheng Liu, Outside Member, Kateryna Dmytrivna Makova, Dissertation Advisor/Co-Advisor, Kateryna Dmytrivna Makova, Committee Chair/Co-Chair, George H Perry, Program Head/Chair.
Subjects/Keywords: Y chromosome; Great apes; Ampliconic genes; Palindromes; Copy number; Evolution
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APA ·
Chicago ·
MLA ·
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CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Vegesna, R. (2020). Evolution of Y chromosome ampliconic genes in great apes. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/17460rxv923
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Vegesna, Rahulsimham. “Evolution of Y chromosome ampliconic genes in great apes.” 2020. Thesis, Penn State University. Accessed March 07, 2021.
https://submit-etda.libraries.psu.edu/catalog/17460rxv923.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Vegesna, Rahulsimham. “Evolution of Y chromosome ampliconic genes in great apes.” 2020. Web. 07 Mar 2021.
Vancouver:
Vegesna R. Evolution of Y chromosome ampliconic genes in great apes. [Internet] [Thesis]. Penn State University; 2020. [cited 2021 Mar 07].
Available from: https://submit-etda.libraries.psu.edu/catalog/17460rxv923.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Vegesna R. Evolution of Y chromosome ampliconic genes in great apes. [Thesis]. Penn State University; 2020. Available from: https://submit-etda.libraries.psu.edu/catalog/17460rxv923
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Penn State University
19.
Campos Sanchez, Rebeca.
Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
.
Degree: 2015, Penn State University
URL: https://submit-etda.libraries.psu.edu/catalog/27199
► The topic of genome architecture is of great interest to evolutionary biologists. Small to large chromosome rearrangements have been reorganizing the genome information, including genes…
(more)
▼ The topic of genome architecture is of great interest to evolutionary biologists. Small to large
chromosome rearrangements have been reorganizing the genome information, including genes and heterochromatic regions such as centromeres and telomeres. Transposable elements (TEs) are an essential component of the genomes of all life forms studied until now, not only because of their abundance but also because of their influence on reshaping the genome architecture. Multiple studies have provided evidence that TEs are located in particular regions of the genome (e.g. GC-rich regions for Alus, or AT-rich regions for L1s). Here, using abundant genomic data and statistical methods as diverse as pair-wise non-parametric tests, multiple linear regression, multiple negative binomial regression, multiple logistic regression, interval testing procedure (ITP), and functional logistic regression (FLR), we addressed two questions about TE biology:
1. How do Alus’, DNA transposons’, and endogenous retroviruses’ (ERVs’) neighboring regions reflect integration site preferences and fixation processes for these TEs? What genomic features are associated with their presence genome-wide?
2. Can we capture integration site preferences alone using data from young, polymorphic or ex vivo integrations?
The results from the TE analyses contributed to our understanding of fixation and integration site preferences genome-wide providing abundant information from diverse genomic features. This information is of great importance to direct studies of insertional mutagenesis and gene therapy. Additionally, we provided a set of statistical tools to analyze complex genomic datasets.
Moreover, we explored the genes on the
Y chromosome of gorilla. We performed this by first, generating
Y-specific transcripts from testis RNAseq data; second, by evaluating their structure in the
Y chromosome assembly; third, by using these transcripts to scaffold the
Y chromosome assembly. Finally, we predicted novel genes from the assembly that could have been transposed from other chromosomes. This project allowed us to create a workflow to assemble
Y transcripts from testis samples; this protocol will be applied in future studies. In addition, we proved the usefulness of transcriptome data to scaffold genomes.
Advisors/Committee Members: Kateryna Dmytrivna Makova, Dissertation Advisor/Co-Advisor, Stephen Wade Schaeffer, Committee Chair/Co-Chair, Ross Cameron Hardison, Committee Member, Mark Shriver, Committee Member, Francesca Chiaromonte, Committee Member.
Subjects/Keywords: genome architecture; transposable elements; genomic features; testis transcriptome; Y chromosome genes
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APA ·
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MLA ·
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CSE |
Export
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Manager
APA (6th Edition):
Campos Sanchez, R. (2015). Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/27199
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Campos Sanchez, Rebeca. “Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
.” 2015. Thesis, Penn State University. Accessed March 07, 2021.
https://submit-etda.libraries.psu.edu/catalog/27199.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Campos Sanchez, Rebeca. “Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
.” 2015. Web. 07 Mar 2021.
Vancouver:
Campos Sanchez R. Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
. [Internet] [Thesis]. Penn State University; 2015. [cited 2021 Mar 07].
Available from: https://submit-etda.libraries.psu.edu/catalog/27199.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Campos Sanchez R. Evolution of genome architecture: from transposable elements distribution to Y chromosome gene structure
. [Thesis]. Penn State University; 2015. Available from: https://submit-etda.libraries.psu.edu/catalog/27199
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Harvard University
20.
Jiang, Pan-Pan.
Patterns of molecular evolution and epistasis on a genomic and genic scale.
Degree: PhD, Biology, Organismic and Evolutionary, 2013, Harvard University
URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156808
► Epistasis describes non-additive interactions which affect gene expression and phenotype. It can happen on multiple levels, including on a genomic level with interactions between genes…
(more)
▼ Epistasis describes non-additive interactions which affect gene expression and phenotype. It can happen on multiple levels, including on a genomic level with interactions between genes or even chromosomes affecting global patterns of gene expression. It can also happen within a gene itself, with epistatic interactions between amino acids affecting gene expression and resultant phenotypes. I present three studies in two organisms to study this phenomenon on a global-genomic scale, and also on a local-genic scale.
Advisors/Committee Members: Hartl, Daniel L. (advisor), Extavour, Cassandra (committee member), Hoekstra, Hopi (committee member), Pringle, Anne (committee member).
Subjects/Keywords: Biology; Genetics; Evolution & development; drug resistance; epistasis; heterochromatin; malaria; Y chromosome
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Jiang, P. (2013). Patterns of molecular evolution and epistasis on a genomic and genic scale. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156808
Chicago Manual of Style (16th Edition):
Jiang, Pan-Pan. “Patterns of molecular evolution and epistasis on a genomic and genic scale.” 2013. Doctoral Dissertation, Harvard University. Accessed March 07, 2021.
http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156808.
MLA Handbook (7th Edition):
Jiang, Pan-Pan. “Patterns of molecular evolution and epistasis on a genomic and genic scale.” 2013. Web. 07 Mar 2021.
Vancouver:
Jiang P. Patterns of molecular evolution and epistasis on a genomic and genic scale. [Internet] [Doctoral dissertation]. Harvard University; 2013. [cited 2021 Mar 07].
Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156808.
Council of Science Editors:
Jiang P. Patterns of molecular evolution and epistasis on a genomic and genic scale. [Doctoral Dissertation]. Harvard University; 2013. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156808
University of the Western Cape
21.
Burrows, Adria Michelle.
A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
.
Degree: 2018, University of the Western Cape
URL: http://hdl.handle.net/11394/6536
► The objective of this study is to deduce paternal ancestry using ancestry informative single nucleotide polymorphisms (SNPs) by means of High Resolution Melting (HRM). This…
(more)
▼ The objective of this study is to deduce paternal ancestry using ancestry
informative single nucleotide polymorphisms (SNPs) by means of High
Resolution Melting (HRM). This was completed by producing a multiplex system
that was designed in a hierarchical manner according to the YSNP tree. This
project mainly focused on African ancestry and was used to infer paternal
ancestral lineages on the Johannesburg Coloured population.
South Africa has a diverse population that has ancestral history from across the
globe. The South African Coloured population is the most admixed population as
it is derived from at least five different population groups: these being Khoisan,
Bantu, Europeans, Indians and Southeast Asians. There have been studies done on
the Western Cape/ Cape Town Coloured populations before but this study focused
on the Johannesburg Coloured population.
Advisors/Committee Members: D’Amato, Maria Eugenia (advisor).
Subjects/Keywords: Haplogroups;
Y-Chromosome;
African ancestry;
Multiplex;
Coloured population;
High resolution melting
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APA ·
Chicago ·
MLA ·
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CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Burrows, A. M. (2018). A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
. (Thesis). University of the Western Cape. Retrieved from http://hdl.handle.net/11394/6536
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Burrows, Adria Michelle. “A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
.” 2018. Thesis, University of the Western Cape. Accessed March 07, 2021.
http://hdl.handle.net/11394/6536.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Burrows, Adria Michelle. “A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
.” 2018. Web. 07 Mar 2021.
Vancouver:
Burrows AM. A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
. [Internet] [Thesis]. University of the Western Cape; 2018. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/11394/6536.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Burrows AM. A comparative ancestry analysis of Y-chromosome DNA haplogroups using high resolution melting
. [Thesis]. University of the Western Cape; 2018. Available from: http://hdl.handle.net/11394/6536
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Tartu University
22.
Post, Helen.
Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
.
Degree: 2020, Tartu University
URL: http://hdl.handle.net/10062/68471
► Inimkonna evolutsioon ja demograafiline ajalugu on jätnud jälje põlvest-põlve päranduvasse genoomi. Geneetilisi andmeid on inimpopulatsioonide uurimisel kasutatud juba sadakond aastat, kuid alles viimase kümnekonna aasta…
(more)
▼ Inimkonna evolutsioon ja demograafiline ajalugu on jätnud jälje põlvest-põlve päranduvasse genoomi. Geneetilisi andmeid on inimpopulatsioonide uurimisel kasutatud juba sadakond aastat, kuid alles viimase kümnekonna aasta tehnoloogilised arengud on avanud tee inimkonna genoomse varieeruvuse arengu terviklikkuse jälgimiseks.
Käesolev töö uurib meeste
Y-kromosoomi geneetilist varieeruvust.
Y-kromosoomi täisjärjestustest rekonstrueeritakse meesliinide fülogeneetilisi puid ning hinnatakse liinide lahknemisaegu.
Väitekiri keskendub Põhja-Euraasia meestel levinud
Y-kromosoomi liini haplogrupp (hg) N uuringutele. Hinnatakse hg N alam-klaadide topoloogiat, lahknemisaegu, levikumustreid ja sagedusi erinevatel Põhja-Euraasia rahvastel. Eraldi analüüsitakse hg N olemasolu Kesk-Euroopas elavatel uurali keeli kõnelevatel ungarlastel ning geograafiliselt kaugetel Uurali mäestiku ümbruses elavatel populatsioonidel, k.a. keelesugulastel. Seni teadaolevalt oli geneetiline seos tänapäeva ungarlasete ja teiste uurali keeli rääkivate rahvaste vahel kasin. Leidsime, et siiski avaldub marginaalne seos
Y-kromosoomi variandi N3a4 kaudu ja ungarlastel esinev N3a4 on kladistiliselt sama, mis ob-ugridel – hantide ja mansidel – ning mitmetel teistel Uurali/Lääne-Siberi rahvastel. Läänemere-soomlaste sõsarliinist lahknes antud liin umbes 4-5 aastatuhande eest.
Lisaks analüüsime meesliine oirat-mongoli keelt rääkivatel kalmõkkidel, kelle esiisad ~400 aasta eest liikusid Lääne-Mongooliast Ida-Euroopa lauskmaa kaguossa. Kalmõkkide isaliine võrreldakse Mongoolias, Kõrgõzstanis ja Hiinas elavate keelesugulaste omadega. Neil hõimudel on levinud hg C3, mille fülogeneetilise puu topoloogia ja teiste hg-de sagedused viitavad kalmõkkide ning keelesugulaste geneetilisele sarnasusele sõltumata lahusolekust. Veidi esineb neil N3a varianti, mis on rohke mitmetel mongoli hõimudel. See näitab Holotseeni keskajast pärinevate meesliinide, kohati ulatuslikku kattuvust uurali ja mongoli keelte rääkijate vahel.; Human evolution and demographic history have left a mark into our genome, passed on through generations. Genetic information has been applied to compare peoples for nearly a century. Yet the technological advances of the past decade have opened a path to whole human genomic variation.
Current thesis studies the genetic variation of the paternally inherited
Y chromosome. Whole
Y chromosome sequences are used in the construction of phylogenetic trees and estimation of lineage split times.
The thesis focuses on a
Y chromosome lineage haplogroup (hg) N that is prevalent in North Eurasian men. A high-resolution phylogenetic tree reveals new sub-lineages; their spread patterns and frequencies are assessed in various North Eurasian populations. Also, the occurrence of hg N is examined in Uralic speaking Hungarians of Central Europe and geographically distant peoples, including linguistic relatives, living around the Ural Mountains. Hungarians are genetically similar to their geographic neighbours. Genetic affinity with other Uralic speakers has been deemed…
Advisors/Committee Members: Villems, Richard, juhendaja (advisor), Rootsi, Siiri, juhendaja (advisor).
Subjects/Keywords: Y chromosome;
phylogeny;
phylogeography;
Hungarians;
Kalmyks;
populations (biology);
North Eurasia
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APA (6th Edition):
Post, H. (2020). Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
. (Thesis). Tartu University. Retrieved from http://hdl.handle.net/10062/68471
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Post, Helen. “Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
.” 2020. Thesis, Tartu University. Accessed March 07, 2021.
http://hdl.handle.net/10062/68471.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Post, Helen. “Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
.” 2020. Web. 07 Mar 2021.
Vancouver:
Post H. Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
. [Internet] [Thesis]. Tartu University; 2020. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10062/68471.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Post H. Overview of the phylogeny and phylogeography of the Y-chromosomal haplogroup N in northern Eurasia and case studies of two linguistically exceptional populations of Europe – Hungarians and Kalmyks
. [Thesis]. Tartu University; 2020. Available from: http://hdl.handle.net/10062/68471
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
University of Oxford
23.
Cooper, Katrina.
Analysis of the centromeric region of the human Y chromosome.
Degree: PhD, 1992, University of Oxford
URL: http://ora.ox.ac.uk/objects/uuid:a86ed79c-84cd-40da-8da9-3afb9acf513d
;
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305982
► The centromere is an important region of the chromosome which ensures correct segregation at cell division. The DNA sequences which make up human centromeres are…
(more)
▼ The centromere is an important region of the chromosome which ensures correct segregation at cell division. The DNA sequences which make up human centromeres are poorly understood. An analysis of the human Y chromosome centromere DNA has therefore been undertaken. The structures of 23 yeast artificial chromosomes (YAC) clones and 4 cosmid clones have been determined and these have contributed to a map of ~7Mb of DNA which span the centromere. The centromeric region of the human Y chromosome contains a single major block of tandemly repeating alphoid DNA which is variable in size. The 5.7kb alphoid subunits are all orientated in one direction and become diverged at the edges of the array. Flanking the alphoid DNA are small blocks of other known tandemly repeated sequences, the 5bp, 48bp and 68bp satellites. These satellites are arranged in an asymmetric manner and are interspersed with a range of low to moderate copy number repeats. Only one putative single copy sequence has been detected. Nearby lie two regions of X-Y homology: a more proximal region which contains a gene (amelogenin) and a more distal region which has previously been shown to result from a recent X-Y transposition event. These results show that the centromeric region of the human Y chromosome is a complex mosaic of tandem repeats and other repeats. Furthermore, they provide a detailed map of the region and thus provide a solid basis for functional studies of candidate centromere determining sequences.
Subjects/Keywords: 572.8; Y chromosome : Centromere : Analysis
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APA (6th Edition):
Cooper, K. (1992). Analysis of the centromeric region of the human Y chromosome. (Doctoral Dissertation). University of Oxford. Retrieved from http://ora.ox.ac.uk/objects/uuid:a86ed79c-84cd-40da-8da9-3afb9acf513d ; http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305982
Chicago Manual of Style (16th Edition):
Cooper, Katrina. “Analysis of the centromeric region of the human Y chromosome.” 1992. Doctoral Dissertation, University of Oxford. Accessed March 07, 2021.
http://ora.ox.ac.uk/objects/uuid:a86ed79c-84cd-40da-8da9-3afb9acf513d ; http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305982.
MLA Handbook (7th Edition):
Cooper, Katrina. “Analysis of the centromeric region of the human Y chromosome.” 1992. Web. 07 Mar 2021.
Vancouver:
Cooper K. Analysis of the centromeric region of the human Y chromosome. [Internet] [Doctoral dissertation]. University of Oxford; 1992. [cited 2021 Mar 07].
Available from: http://ora.ox.ac.uk/objects/uuid:a86ed79c-84cd-40da-8da9-3afb9acf513d ; http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305982.
Council of Science Editors:
Cooper K. Analysis of the centromeric region of the human Y chromosome. [Doctoral Dissertation]. University of Oxford; 1992. Available from: http://ora.ox.ac.uk/objects/uuid:a86ed79c-84cd-40da-8da9-3afb9acf513d ; http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305982
24.
Ruthig, Victor.
Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes.
Degree: 2017, University of Hawaii – Manoa
URL: http://hdl.handle.net/10125/51504
► Ph.D. University of Hawaii at Manoa 2016.
There have been decades of work on the Y chromosome and how it relates to maleness and male…
(more)
▼ Ph.D. University of Hawaii at Manoa 2016.
There have been decades of work on the Y chromosome and how it relates to maleness and male reproduction. In light of the increasing decline of human male fertility and dependence on assisted reproduction more knowledge about the causes behind male infertility is needed to find more solutions for affected men. This dissertation details histological investigations aiming to elucidate function of Y chromosome genes in male development and fertility using a mouse model. The testis and the seminiferous tubules within were explored and spermatogenesis was quantitatively assessed. Males lacking Y chromosome and transgenic for either the key Y-derived transgenes (Sry and Eif2s3y) or transgenes of their non Y-derived homologues (Sox9 and Eif2s3x) were shown to produce haploid germ cells that could be used for assisted reproduction technologies (ART) and yield live offspring. Another Y chromosome gene, Zfy2, was identified as a gene allowing for transformation of round spermatids into sperm. While in males with only two Y chromosome genes, Sry and Eif2s3y, spermatogenesis progressed to round spermatid stage, addition of Zfy2 allowed for complete spermatogenesis and formation of sperm capable of generating offspring with ART. Investigations into the testicular abnormalities in mice with limited Y chromosome gene contribution showed relationship between the number of Y genes present and the severity and distribution of cellular abnormalities in the seminiferous epithelium and defects of the testis interstitium. Human spermatogenesis was also histologically investigated utilizing testis biopsies from normal and infertile men, some with Y chromosome azoospermic factor (AZF) deletions, validating mice with Y chromosome deficiencies as a model for human male Y-linked infertility. Gross anatomy investigations into human male urogenital anatomy were also undertaken using a novel dissection method in order to grow the repository of male urogenital teaching tools at the medical school. Both examined specimens had common male genital pathologies (direct inguinal hernia, varicocele) and so also showcase physical abnormalities that can affect male reproductive health.
Subjects/Keywords: Y chromosome; spermatogenesis; male development; male fertility; male anatomy; testis histology
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APA (6th Edition):
Ruthig, V. (2017). Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes. (Thesis). University of Hawaii – Manoa. Retrieved from http://hdl.handle.net/10125/51504
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Ruthig, Victor. “Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes.” 2017. Thesis, University of Hawaii – Manoa. Accessed March 07, 2021.
http://hdl.handle.net/10125/51504.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Ruthig, Victor. “Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes.” 2017. Web. 07 Mar 2021.
Vancouver:
Ruthig V. Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes. [Internet] [Thesis]. University of Hawaii – Manoa; 2017. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10125/51504.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Ruthig V. Microscopic and Macroscopic Investigations of Male Development Anatomy and Fertility, and the Role of Y Chromosome Genes. [Thesis]. University of Hawaii – Manoa; 2017. Available from: http://hdl.handle.net/10125/51504
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
University of Louisville
25.
Mann, Allison.
Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands.
Degree: MA, 2012, University of Louisville
URL: 10.18297/etd/901
;
https://ir.library.louisville.edu/etd/901
► The Faroe Islands are a small archipelago in the North Atlantic. With a current population of approximately 49,000 individuals and evidence of high levels…
(more)
▼ The Faroe Islands are a small archipelago in the North Atlantic. With a current population of approximately 49,000 individuals and evidence of high levels of genetic drift, the Faroese are thought to have remained highly homogeneous since their settlement by Vikings around 825 CE. Despite their geographic isolation, however, there is historical evidence that the Faroese experienced sporadic contact with other populations since the time of founding. This study set out to distinguish the signal of the original founders from later migrants. Twelve
Y-chromosomal STR markers were scored for 139 Faroese males. Median-joining networks were constructed to determine the phylogenetic relationships within the Faroese and between likely parental populations. Dispersal patterns of individuals around Faroese haplogroups suggest different times of haplogroup introduction to the islands. The most common haplogroup, R1a, consists of a large node with a tight network of neighbor haplotypes, such that 62.06% of R1a individuals are = two mutational steps away. This pattern may represent the early founder event of R1a in the Faroes. Other distributions document more recent introductions to the islands. The overall pattern is one of a strong founder effect followed by minor instances of later migrations.
Advisors/Committee Members: Tillquist, Christopher R..
Subjects/Keywords: Faroes; Genetics; Y chromosome; Island; Population history; Network
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APA (6th Edition):
Mann, A. (2012). Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands. (Masters Thesis). University of Louisville. Retrieved from 10.18297/etd/901 ; https://ir.library.louisville.edu/etd/901
Chicago Manual of Style (16th Edition):
Mann, Allison. “Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands.” 2012. Masters Thesis, University of Louisville. Accessed March 07, 2021.
10.18297/etd/901 ; https://ir.library.louisville.edu/etd/901.
MLA Handbook (7th Edition):
Mann, Allison. “Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands.” 2012. Web. 07 Mar 2021.
Vancouver:
Mann A. Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands. [Internet] [Masters thesis]. University of Louisville; 2012. [cited 2021 Mar 07].
Available from: 10.18297/etd/901 ; https://ir.library.louisville.edu/etd/901.
Council of Science Editors:
Mann A. Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands. [Masters Thesis]. University of Louisville; 2012. Available from: 10.18297/etd/901 ; https://ir.library.louisville.edu/etd/901
Texas State University – San Marcos
26.
Herrera, Brianne.
Genetic and Craniometric Comparative Analysis of Three Mexican Populations.
Degree: MA, Anthropology, 2013, Texas State University – San Marcos
URL: https://digital.library.txstate.edu/handle/10877/4618
► Previous research has shown that craniometric data can serve as a proxy for molecular data (Relethford 2001, Roseman 2004) and that cranial shape is somewhat…
(more)
▼ Previous research has shown that craniometric data can serve as a proxy for molecular data (Relethford 2001, Roseman 2004) and that cranial shape is somewhat shaped by gene flow (Relethford 2004). Previous research on admixture frequencies suggests that complex population histories resulting from differential admixture account for the complex patterns of biological variation found throughout Mexico (Merriwether et al. 1997, Juárez-Cedillo et al. 2008). The purpose of this study is to test whether or not craniometric data show the same population patterns as molecular data and if so, can it be used to help reconstruct population history for archaeological groups in North and Central Mexico. Craniometric data were obtained from the Sonora, Michoácan, and Tlanepantla groups, dating between AD 1200 and 1500 (Beekman and Christensen 2003) and curated at the American Museum of Natural History. Molecular data were obtained that best approximated the craniometric groups, including the Tarahumara, Purépecha, and the Otomi. Allele distributions forsix
Y-linked short tandem repeats (STRs) in the Tarahumara and Purepécha populations were obtained from previously published data (Rangel-Villalobos et al. 2008). Allele distributions for the same six
Y-linked STRs in the Otomi population were also studied (Barrot et al. 2007). Mitochondrial DNA (mtDNA) haplogroup frequencies from the same populations, Tarahumara, Purépecha, and Otomi, were used as well (Peñaloza-Espinosa et al. 2007). Distance matrices for the molecular data were obtained in the Kship program (Jantz, no date) and the craniometric distance matrix was obtained in Rmet (Relethford, 2003). Mantel tests were also performed. There were no statistically significant correlations found. Evidence for patrilocality was seen with the FST estimates and the distance matrices. When geography was considered, it was found that populations that were farthest away had the strongest similarity, except in the case of mtDNA, in which the most similar followed geographic distance.
Advisors/Committee Members: Spradley, Kate (advisor), Bolnick, Deborah (committee member), Hamilton, Michelle (committee member).
Subjects/Keywords: Mexican; mtDNA; Y-chromosome; Craniometric; Human remains (Archaeology) – Mexico; Anthropology; Craniometry
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APA ·
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Export
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APA (6th Edition):
Herrera, B. (2013). Genetic and Craniometric Comparative Analysis of Three Mexican Populations. (Masters Thesis). Texas State University – San Marcos. Retrieved from https://digital.library.txstate.edu/handle/10877/4618
Chicago Manual of Style (16th Edition):
Herrera, Brianne. “Genetic and Craniometric Comparative Analysis of Three Mexican Populations.” 2013. Masters Thesis, Texas State University – San Marcos. Accessed March 07, 2021.
https://digital.library.txstate.edu/handle/10877/4618.
MLA Handbook (7th Edition):
Herrera, Brianne. “Genetic and Craniometric Comparative Analysis of Three Mexican Populations.” 2013. Web. 07 Mar 2021.
Vancouver:
Herrera B. Genetic and Craniometric Comparative Analysis of Three Mexican Populations. [Internet] [Masters thesis]. Texas State University – San Marcos; 2013. [cited 2021 Mar 07].
Available from: https://digital.library.txstate.edu/handle/10877/4618.
Council of Science Editors:
Herrera B. Genetic and Craniometric Comparative Analysis of Three Mexican Populations. [Masters Thesis]. Texas State University – San Marcos; 2013. Available from: https://digital.library.txstate.edu/handle/10877/4618
27.
Souza, Gustavo Reis Branco de.
Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas.
Degree: 2010, Universidade Federal de Alagoas
URL: http://www.repositorio.ufal.br/handle/riufal/931
► Several approaches using molecular biology techniques and the social sciences has been employed in order to clarify the involvement of Africans and their descendants in…
(more)
▼ Several approaches using molecular biology techniques and the social sciences has been employed in order to clarify the involvement of Africans and their descendants in the history of Brazil. The African presence in America dates back to the sixteenth century when men and women were sold as slaves to serve as manpower in the colonies of Europe. It is estimated that since that time more than 15 million people have been brought forcibly to the Americas, 40% had Brazil as a destination. These Africans and their descendants started swapping genes with Europeans and Indians who inhabited the region. However, is not yet known in detail the participation of Africans in shaping history and genetics of population. Difficult access to detailed history of Africans and their descendants in Brazil is due largely to lack of documents and other historical data and geography, and only recently modern techniques of molecular biology have allowed a detailed analysis of the origin and migration of peoples. Quilombo communities are remnants of Quilombo, which were groups of runaway slaves and freedmen, located in remote and inaccessible. Quilombo is a Bantu word which means warrior camp in the forest. This study aimed to determine the polymorphism of 11 microsatellite markers on the Y chromosome in the maroon communities of the State of Alagoas. We analyzed 11 microsatellite loci of 211 men in nine maroon communities of the State of Alagoas, identified 108 haplotypes. The haplotype diversity varied from 0.7464 ± 0.0907 (Muquém) to 0.9794 ± 0.0594 (Carrasco), suggesting that there is significant founder effect in these communities. Analysis of molecular variance (AMOVA) revealed that populations have maroon marked heterogeneity, with 25.4% of the variation due to differences among the 74.6% and intrapopulation differences. The ancient African lineages, Amerindian and European is quite varied, noting that some populations are genetically closer to European and other populations of African populations.
Fundação de Amparo a Pesquisa do Estado de Alagoas
Diversas abordagens utilizando técnicas de biologia molecular e de ciências sociais tem sido empregadas com a finalidade de esclarecer a participação dos africanos e seus descendentes na historia do Brasil. A presença do africano na América remonta ao século XVI, quando homens e mulheres foram comercializados como escravos para servirem de mão-de-obra nas colônias européias. Estima se que desde essa época mais de 15 milhões de pessoas tenham sido trazidas forçadamente para o continente americano, sendo que 40% delas tiveram o Brasil como destino. Esses africanos e seus descendentes iniciaram troca de genes com europeus e índios que já habitavam a região. No entanto, ainda não se conhece em detalhes a participação dos africanos na formação histórica e genética da população brasileira. A dificuldade de acesso à historia detalhada dos africanos e seus descendentes no Brasil se deve em grande parte a escassez de documentos e outros dados histórico-geográficos, e só recentemente técnicas…
Advisors/Committee Members: Silva, Luiz Antonio Ferreira da, CPF:18269427004, SILVA, L. A. F., Carvalho, Elizeu Fagundes de, CPF:46328246749, http://lattes.cnpq.br/2742420738858309, Tovar, Francisco Javier, CPF:02177610702, http://lattes.cnpq.br/2366497420587582, Azevedo, Dalmo Almeida de, CPF:49935275949, http://lattes.cnpq.br/4202083703695616.
Subjects/Keywords: Genética humana; Quilombolas Alagoas; Cromossomo Y; Marcadores genéticos do cromossomo Y; Human genetics; Quilombolas Alagoas; Y-Chromosome; Genetic markers on chromosome Y; CNPQ::CIENCIAS DA SAUDE
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APA (6th Edition):
Souza, G. R. B. d. (2010). Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas. (Masters Thesis). Universidade Federal de Alagoas. Retrieved from http://www.repositorio.ufal.br/handle/riufal/931
Chicago Manual of Style (16th Edition):
Souza, Gustavo Reis Branco de. “Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas.” 2010. Masters Thesis, Universidade Federal de Alagoas. Accessed March 07, 2021.
http://www.repositorio.ufal.br/handle/riufal/931.
MLA Handbook (7th Edition):
Souza, Gustavo Reis Branco de. “Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas.” 2010. Web. 07 Mar 2021.
Vancouver:
Souza GRBd. Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas. [Internet] [Masters thesis]. Universidade Federal de Alagoas; 2010. [cited 2021 Mar 07].
Available from: http://www.repositorio.ufal.br/handle/riufal/931.
Council of Science Editors:
Souza GRBd. Determinação do polifomorfismo de 11 marcadores microssatélites do cromossomo Y nas comunidades quilombolas do estado de Alagoas. [Masters Thesis]. Universidade Federal de Alagoas; 2010. Available from: http://www.repositorio.ufal.br/handle/riufal/931
Universidade do Rio Grande do Sul
28.
Machado, Rafael Bisso.
Vestígios do passado : a história ameríndia revelada através de marcadores genéticos.
Degree: 2010, Universidade do Rio Grande do Sul
URL: http://hdl.handle.net/10183/25142
► Este trabalho teve como meta principal contribuir para elucidar algumas das questões em aberto pertinentes à história evolutiva e antropológica de populações nativas americanas. Para…
(more)
▼ Este trabalho teve como meta principal contribuir para elucidar algumas das questões em aberto pertinentes à história evolutiva e antropológica de populações nativas americanas. Para isso investigou-se marcadores uniparentais paternos, ligados à NRY, e materno, mtDNA. Para o cromossomo
Y foram investigados 108 indivíduos (85 sulameríndios de 16 tribos, pertencentes a 5 grupos lingüísticos, além de 23 asiáticos (siberianos), compreendendo 6 grupos étnicos distintos). Para o mtDNA foram investigados 160 indivíduos (homens e mulheres), compreendendo 10 tribos sulamericanas, pertencentes a 5 grupos lingüísticos distintos. Para o cromossomo
Y foram utilizados 26 marcadores (SNPs). Para o mtDNA a região controladora-RC (HVS-I: da posição 16.024 até 16.569, e HVS-II: da posição 001 até 576) e a região imediatamente 5’ à região controladora foram seqüenciadas. Foi possível determinar para o cromossomo
Y que Q1a3a* (autóctone nativo-americano, de provável origem beringiana) está fixado em 63% das tribos; o haplogrupo Q1a3*, que por outro lado também é encontrado na Ásia, foi observado entre os Araweté (25%), Jamamadi (100%), Lengua (25%) e esquimós asiáticos (17%). Merece destaque que Q1a3* parece ser o que até agora era identificado como sendo apenas “haplogrupo Q*”, ou seja, cromossomo
Y portador do alelo derivado no loco M242, mas com alelo ancestral para o M3. Nenhuma das novas mutações mencionadas na atual árvore filogenética do cromossomo
Y (com exceção do M346, que define Q1a3*) foram encontradas. O seqüenciamento de regiões do cromossomo
Y não revelou nenhuma nova mutação. No caso do mtDNA, os indígenas do tronco Ge mostram os haplogrupos B e A como sendo os mais freqüentes, enquanto que nos Tupi esses haplogrupos apresentam freqüências mais elevadas apenas em regiões bastante restritas, ficando o haplogrupo D como o mais freqüente. Cabe salientar que o haplogrupo C apresenta freqüência muito baixa tanto para os Ge quanto para os Tupi, sendo que freqüências um pouco mais elevadas estão quase que geograficamente opostas, ficando no sul do Brasil para os Ge e no norte para os Tupi. Avaliando o modelo de fissão-fusão pôde-se sugerir que: 1) As linhagens mitocondriais tribo-específicas dentro das tribos Kayapó aqui investigadas dificilmente representariam linhagens autóctones, já que o tempo de surgimento de cada tribo por processo de fissão é pequeno para comportar uma rede de novas mutações. As especificidades poderiam estar vinculadas ao modelo de fissão envolvendo grupos de pessoas aparentadas via materna. Nesse caso, grupos de parentes carregariam para fora do grupo parental todas as seqüências pertencentes a uma determinada linhagem. Assim a linhagem estaria presente somente no grupo derivado e não mais no parental; 2) Perda de linhagens parentais na dispersão e/ou por deriva na formação do novo grupo, o que resultaria na diferença encontrada entre os grupos derivados; 3) Embora não se possa excluir alguma fusão posterir a fissão, a quantidade de linhages exclusivas nas tribos Kayapó estaria indicando relativo…
Advisors/Committee Members: Bortolini, Maria Cátira.
Subjects/Keywords: Y chromosome; Genética de populações; Marcadores genéticos; mtDNA; Ameríndios; HVS; Amerindians; Cromossomo Y
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APA (6th Edition):
Machado, R. B. (2010). Vestígios do passado : a história ameríndia revelada através de marcadores genéticos. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/25142
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Machado, Rafael Bisso. “Vestígios do passado : a história ameríndia revelada através de marcadores genéticos.” 2010. Thesis, Universidade do Rio Grande do Sul. Accessed March 07, 2021.
http://hdl.handle.net/10183/25142.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Machado, Rafael Bisso. “Vestígios do passado : a história ameríndia revelada através de marcadores genéticos.” 2010. Web. 07 Mar 2021.
Vancouver:
Machado RB. Vestígios do passado : a história ameríndia revelada através de marcadores genéticos. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2010. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/10183/25142.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Machado RB. Vestígios do passado : a história ameríndia revelada através de marcadores genéticos. [Thesis]. Universidade do Rio Grande do Sul; 2010. Available from: http://hdl.handle.net/10183/25142
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
29.
Ricardo Goulart Rodovalho.
MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS.
Degree: 2008, Universidade Católica de Goiás
URL: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=524
► A infertilidade masculina é considerada uma condição de difícil tratamento, o que ocorre pelo fato dela não ser uma entidade única, mas refletir uma variedade…
(more)
▼ A infertilidade masculina é considerada uma condição de difícil tratamento, o que ocorre pelo fato dela não ser uma entidade única, mas refletir uma variedade de diferentes condições patológicas, dificultando uma estratégia única de tratamento. Alterações estruturais no cromossomo Y têm sido o principal responsável pela infertilidade masculina. Nós investigamos 26 familiares de 13 pacientes portadores de infertilidade masculina que apresentaram deleções na região AZF. Na família 01, o pai e um irmão não apresentaram microdeleção. Entretanto um filho apresentou microdeleção em AZFa (sY84) e espermograma azoospérmico, mas o outro filho apresentou microdeleção em AZFa (sY84) e AZFb (sY127) e um espermograma normal. O pai da família 02, oligozoospérmico severo, apresentou microdeleção na região AZFa (sY84) e seu filho, gerado através da ICSI, também apresentou a mesma microdeleção. Nas outras famílias, apenas os homens com espermograma alterado apresentaram a microdeleção. Provavelmente, na família 01, o pai e o irmão sem microdeleção podem apresentar microdeleções em regiões anteriores ou posteriores àquela analisada. O tratamento com ICSI pode levar à transmissão vertical de microdeleções da região AZF e também pode ocasionar na expansão da mutação de novo. Este resultado reforça a necessidade de uma investigação de microdeleção do cromossomo Y em indivíduos candidatos a reprodução assistida, assim como um acompanhamento e aconselhamento genético.
Male infertility is under a difficult condition of treatment, because it is not a single entity, but reflecting a variety of different pathological conditions, preventing a unique strategy of treatment. Structural changes in Y chromosome have been responsible for male infertility. We examined 26 family members of 13 patients with male infertility and had deletions in the AZF region. In the family 01, a father and a brother did not present a microdeletion. However, one son present a microdeletion in AZFa (sY84) and spermogram azoospermic but the another son present a microdeletion in AZFa (sY84) and AZFb (sY127) and a normal spermogram. The father of the family 02, a severe oligozoospermic man, presented a microdeletion in AZFa (sY84) and his son, conceived by ICSI process, also presented the same microdeletion. In the other families, only the men with changed spermogram had presented the microdeletion. Probably, in family 01, the father and the brother without microdeletions can to present microdeletions of previous or posterior regions to that one analyzed. The treatment with ICSI can lead to the vertical transmission of microdeletions in AZF region and also it can cause in the expansion of the mutation de novo. This result reinforces the need for an investigation of Y chromosome microdeletion in individual candidates for assisted reproduction, as well as a tracking genetic counseling.
Advisors/Committee Members: Katia Karina Verolli de Oliveira Moura.
Subjects/Keywords: infertilidade masculina; vertical transmission; Y chromosome; GENETICA; transmissão vertical; male infertility; cromossomo Y
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APA (6th Edition):
Rodovalho, R. G. (2008). MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS. (Thesis). Universidade Católica de Goiás. Retrieved from http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=524
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Rodovalho, Ricardo Goulart. “MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS.” 2008. Thesis, Universidade Católica de Goiás. Accessed March 07, 2021.
http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=524.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Rodovalho, Ricardo Goulart. “MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS.” 2008. Web. 07 Mar 2021.
Vancouver:
Rodovalho RG. MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS. [Internet] [Thesis]. Universidade Católica de Goiás; 2008. [cited 2021 Mar 07].
Available from: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=524.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Rodovalho RG. MICRODELEÇÕES DA REGIÃO AZF (YQ11) DE DESCENDENTES POR PATRILINHAGEM DE HOMENS INFÉRTEIS. [Thesis]. Universidade Católica de Goiás; 2008. Available from: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=524
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Boston University
30.
McDermott, Tyler L.
Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit.
Degree: MS, Biomedical Forensic Sciences, 2019, Boston University
URL: http://hdl.handle.net/2144/38674
► The application of Y-chromosome analysis is expanding in fields such as forensic science and genealogy. By researching the potential polymorphisms this chromosome can present, we…
(more)
▼ The application of
Y-
chromosome analysis is expanding in fields such as forensic science and genealogy. By researching the potential polymorphisms this
chromosome can present, we can further our ability to assess DNA profiles for these disciplines to avoid erroneous exclusions of paternal linkage, wrongful convictions based on forensic evidence, and other misinformed genetic conclusions. The conservation of
Y-haplotypes during transmission occurs due to a relative lack of genetic recombination events in the inheritance of the
Y-
chromosome [1]. However, random mutation events can occur in a paternal line resulting in haplotype changes. These changes can include allele duplications and deletions that occur at the STR and SNP loci used in forensic DNA analysis. This can become important in cases of sexual assault where male-female mixture samples have low amounts of male DNA such that the male signal is not amplified in currently used STR multiplexes [7].
In this study, we analyzed a father and his eleven sons using two different methodologies for genetic analysis; next generation sequencing and capillary electrophoresis. The samples were obtained from the Coriell Institute for Medical Research located in Hamden, NJ, in the form of frozen DNA extracts isolated from a blood-sourced lymphocyte cell culture [22]. DNA from these samples was tested with the ForenSeqTM DNA Signature Prep Kit [14] (Verogen, San Diego, CA) primer set A and the YFilerTM Plus PCR Amplification Kit [24] (Thermo Fisher Scientific, Waltham, MA). Using these two platforms, three
Y-STR loci were identified as discordant between the father and all of his eleven sons. In all three instances, the father possessed the same allele as the sons as well as one additional allele. At two of these loci (DYS449 and DYS635), the additional allele was one repeat (4bp) longer than that of the shared allele. At the other locus (DYS458), the additional allele was three repeats (12bp) longer than that of the shared allele. Following read count and peak height analysis, it was concluded that these double allele loci are not the product of stutter and are potentially the product of a non-inheritable mutation. With the knowledge that the DNA was extracted from a blood lymphocyte cell culture, it is believed that a somatic mutation may be present in the cell line. We are not able to determine whether the mutations exist in the blood of the father (true somatic mutations) or occurred as a result of the cell culture process.
Throughout the study, details concerning the position of these loci on the
Y-
chromosome, the repeat motifs of the alleles, and the potential for duplication and/or stutter as the originating event are discussed in an effort to further understand this phenomenon. Potential locus duplications were compared to those reported on the National Institute of Standards and Technology STRBase [21] list of allele variations and also to information found in literature. The observed DYS635 locus had an allele designation of 21,22 which is reported on STRBase. The…
Advisors/Committee Members: Cotton, Robin W. (advisor).
Subjects/Keywords: Molecular biology; Locus duplication; Mutation; Next generation sequencing; Paternity; Y-chromosome; Y-STR
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APA ·
Chicago ·
MLA ·
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CSE |
Export
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Manager
APA (6th Edition):
McDermott, T. L. (2019). Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit. (Masters Thesis). Boston University. Retrieved from http://hdl.handle.net/2144/38674
Chicago Manual of Style (16th Edition):
McDermott, Tyler L. “Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit.” 2019. Masters Thesis, Boston University. Accessed March 07, 2021.
http://hdl.handle.net/2144/38674.
MLA Handbook (7th Edition):
McDermott, Tyler L. “Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit.” 2019. Web. 07 Mar 2021.
Vancouver:
McDermott TL. Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit. [Internet] [Masters thesis]. Boston University; 2019. [cited 2021 Mar 07].
Available from: http://hdl.handle.net/2144/38674.
Council of Science Editors:
McDermott TL. Analysis of unusual mutation patterns within father-son pairs using a ForenSeq DNA Signature Prep Kit and a YFiler Plus PCR Amplification Kit. [Masters Thesis]. Boston University; 2019. Available from: http://hdl.handle.net/2144/38674
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Open Access Theses and Dissertations
