subject:(genomic imprinting)

1. Douglas, Kory C. Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica.

Degree: 2013, Texas Digital Library

URL: http://hdl.handle.net/1969; http://hdl.handle.net/2249.1/66600

► Imprinted genes have been extensively documented in eutherian mammals and exhibit significant interspecific variation, both in the suites of genes that are imprinted and in… (more)

▼ Imprinted genes have been extensively documented in eutherian mammals and exhibit significant interspecific variation, both in the suites of genes that are imprinted and in their regulation between tissues and developmental stages. Much less is known about imprinted loci in metatherian (marsupial) mammals, wherein studies have been limited to a small number of genes imprinted in eutherians. In this dissertation, I used ChIP-seq and RNA-seq approaches to conduct the first ab initio search for imprinted autosomal genes in fibroblasts, fetal brain, and placenta of a metatherian mammal, the gray short-tailed opossum, Monodelphis domestica, and the first chromosome-wide study of paternally imprinted metatherian X chromosome inactivation. Evidence from a few genes in diverse species suggests that metatherian X- chromosome inactivation is characterized by exclusive, but incomplete (leaky), repression of genes on the paternally derived X chromosome. Herein I show that the majority of opossum X-linked genes exhibit paternally imprinted expression with 100% maternal-allele expression, whereas ~14% of genes escape inactivation, exhibiting varying levels of biallelic expression. In addition, I have shown that transcriptionally opposing histone modifications correlate strongly with opossum XCI. However, the opossum did not show an association between X-linked gene expression and promoter DNA methylation. In generating the first genome-wide profile of histone modification states for a metatherian mammal, and coupling it with in-depth gene expression analyses, I identified the first set of genes imprinted in a metatherian that are not imprinted in eutherian mammals and described transcriptionally opposing histone modifications and differential DNA methylation at the promoters of a subset of these genes. My findings suggest that metatherians use multiple epigenetic mechanisms to mark imprinted genes and support the concept that lineage-specific selective forces can produce sets of imprinted genes that differ between metatherian and eutherian lines. Overall, these studies furnish a comprehensive catalog of parent-of-origin expression status for both autosomal and X-linked genes in a metatherian, Monodelphis domestica, and open new avenues for illuminating the mechanisms and evolution of imprinted gene regulation in mammals generally. Advisors/Committee Members: Samollow, Paul (advisor).

Subjects/Keywords: Genomic Imprinting

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APA (6^th Edition):

Douglas, K. C. (2013). Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica. (Thesis). Texas Digital Library. Retrieved from http://hdl.handle.net/1969; http://hdl.handle.net/2249.1/66600

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Douglas, Kory C. “Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica.” 2013. Thesis, Texas Digital Library. Accessed January 20, 2021. http://hdl.handle.net/1969; http://hdl.handle.net/2249.1/66600.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Douglas, Kory C. “Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica.” 2013. Web. 20 Jan 2021.

Vancouver:

Douglas KC. Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica. [Internet] [Thesis]. Texas Digital Library; 2013. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1969; http://hdl.handle.net/2249.1/66600.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Douglas KC. Genomic Imprinting and X-Chromosome Inactivation in the Gray, Short-Tailed Opossum, Monodelphis domestica. [Thesis]. Texas Digital Library; 2013. Available from: http://hdl.handle.net/1969; http://hdl.handle.net/2249.1/66600

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Central Connecticut State University

2. Duong, Linh (Linh Mong), 1981-. Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts.

Degree: Department of Biological Sciences, 2015, Central Connecticut State University

URL: http://content.library.ccsu.edu/u?/ccsutheses,2204

►

While it was only a few years ago that human in vitro fertilization (IVF) was routinely conducted under high atmospheric oxygen conditions (~20% oxygen) –… (more)

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While it was only a few years ago that human in vitro fertilization (IVF) was routinely conducted under high atmospheric oxygen conditions (~20% oxygen) – a stark contrast to estimated 5% oxygen levels found in vivo – studies have demonstrated that differing oxygen concentrations can significantly impact embryonic development. We hypothesized that embryos cultured under 20% oxygen will have increased levels of TET1-3 expression leading to greater conversion of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) ultimately resulting in DNA demethylation. Imprinting disorders are often caused by the loss of imprinting due to DNA demethylation and the biallelic expression of imprinted genes. The goal of this study was to develop and optimize protocol conditions to assess the effects 5% and 20% oxygen on 5mC and 5hmC content in differentially methylated regions (DMR) of imprinted genes in bovine IVF blastocysts. DNA was extracted from commercially generated bovine IVF blastocysts, fragmented by sonication, and enriched for 5mC and 5hmC. Next, the DNA was purified and amplified using a whole genome amplification kit. Lastly, real time quantitative polymerase chain reaction (qPCR) was used to quantify the 5mC and 5hmC-enriched DNA. My study identified key steps in several protocols that were important in assessing methylation patterns: 1) the selection of the buffer for sonication was essential to ensure fragmented DNA was between 200–500 base pairs for enrichment; 2) proper primer design was fundamental to assessing differences in enrichment; and 3) most importantly, the method used for DNA extraction was a key determining factor in the success of downstream experiments as low DNA yield reduced the effectiveness of enrichment and subsequent amplification. This thesis is an important step in constructing objective tools to evaluate the effects of the culture environment on methylation patterns in a small numbers of embryos.

"Submitted in Partial Fulfillment of the Requirements for the Degree of Master of Science in Biology, Health Sciences Specialization, Department of Biology."; Thesis advisor: Sadie Marjani.; M.S.,Central Connecticut State University,,2015.;

Advisors/Committee Members: Marjani, Sadie.

Subjects/Keywords: Epigenetics.; Genomic imprinting.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Duong, Linh (Linh Mong), 1. (2015). Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts. (Thesis). Central Connecticut State University. Retrieved from http://content.library.ccsu.edu/u?/ccsutheses,2204

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Duong, Linh (Linh Mong), 1981-. “Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts.” 2015. Thesis, Central Connecticut State University. Accessed January 20, 2021. http://content.library.ccsu.edu/u?/ccsutheses,2204.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Duong, Linh (Linh Mong), 1981-. “Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts.” 2015. Web. 20 Jan 2021.

Vancouver:

Duong, Linh (Linh Mong) 1. Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts. [Internet] [Thesis]. Central Connecticut State University; 2015. [cited 2021 Jan 20]. Available from: http://content.library.ccsu.edu/u?/ccsutheses,2204.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Duong, Linh (Linh Mong) 1. Comparative analysis of protocols used in testing effects of high oxygen culture conditions on the 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) content in differentially methylated regions (DMR) of imprinted genes in bovine in vitro fertilized (IVF) blastocysts. [Thesis]. Central Connecticut State University; 2015. Available from: http://content.library.ccsu.edu/u?/ccsutheses,2204

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Bath

3. Madon, Marta. Characterisation of the imprinted genes in mouse, Grb10 and Dlk1.

Degree: PhD, 2012, University of Bath

URL: https://researchportal.bath.ac.uk/en/studentthesis/characterisation-of-the-imprinted-genes-in-mouse(3b309746-bf6b-4276-8689-813eafbea479).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801

► Genomic imprinting provides an exception to the Mendelian rule of inheritance, as imprinted genes are preferentially expressed in a parent-of-origin specific manner. They play important… (more)

▼ Genomic imprinting provides an exception to the Mendelian rule of inheritance, as imprinted genes are preferentially expressed in a parent-of-origin specific manner. They play important roles in the development of embryonic and extra-embryonic lineages and postnatally in the maintenance of correct metabolic homeostasis as well as regulation of adult behaviour. The parental conflict theory predicts that maternally expressed genes act as growth suppressors, limiting the usage of maternal resources, and that paternally expressed genes function in an opposite manner to promote growth at the expense of maternal resources. Growth factor bound protein 10 (Grb10) is an imprinted gene encoding an intracellular adaptor protein that can interact with several receptor tyrosine kinases and downstream signalling molecules. Recently, our lab has identified Grb10 as a unique imprinted gene capable of influencing fetal growth, postnatal energy metabolism and adult behaviour depending on functions of each of the parental alleles in distinct tissues. Grb10 predominantly expressed from the maternal allele during embryogenesis affects fetal and placental growth along with postnatal glucose homeostasis, whereas paternal Grb10 expression within the CNS influences social behaviour. Delta-like homologue 1 is (Dlk1) a paternally expressed imprinted gene coding for a protein belonging to the Notch/Delta family that acts as a membrane-associated or a soluble protein known to regulate differentiation of various cell types, notably adipocytes. In vivo Dlk1 has been associated with perinatal survival, regulation of normal growth and development and maintenance of the correct course of adipogenesis. Here a hypothesis is proposed that Grb10, as a predominantly maternally expressed growth inhibitor and Dlk1, a paternally expressed growth promoter, act antagonistically in a common genetic pathway. To test this hypothesis, we have generated Grb10m/+/Dlk1+/p double knockout mice and performed a phenotypic characterisation in comparison with wild type as well as the respective single knockout animals. Results obtained from allometric and metabolic analyses, together with histological studies, reveal strong similarities between the phenotypes of Grb10m/+and Grb10m/+/Dlk1+/p knockout mice. We found that overgrowth of Grb10m/+/Dlk1+/p embryos and placentae resemble the phenotype seen in Grb10m/+ mutants and that tissue overgrowth most likely results from higher proliferation rates of Grb10m/+and Grb10m/+/Dlk1+/p cells. Furthermore, Grb10m/+and Grb10m/+/Dlk1+/p knockout mice each exhibit improved glucose clearance and share an unusual characteristic accumulation of lipid in neonatal liver. These results are consistent with the proposed hypothesis and indicate that the Dlk1 and Grb10 genes might be involved in the same genetic pathway. Moreover, the data suggest Dlk1 is an inhibitor of Grb10 which is in turn acting as a growth suppressor.

Subjects/Keywords: 572.865; genomic imprinting; Grb10; Dlk1

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APA (6^th Edition):

Madon, M. (2012). Characterisation of the imprinted genes in mouse, Grb10 and Dlk1. (Doctoral Dissertation). University of Bath. Retrieved from https://researchportal.bath.ac.uk/en/studentthesis/characterisation-of-the-imprinted-genes-in-mouse(3b309746-bf6b-4276-8689-813eafbea479).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801

Chicago Manual of Style (16^th Edition):

Madon, Marta. “Characterisation of the imprinted genes in mouse, Grb10 and Dlk1.” 2012. Doctoral Dissertation, University of Bath. Accessed January 20, 2021. https://researchportal.bath.ac.uk/en/studentthesis/characterisation-of-the-imprinted-genes-in-mouse(3b309746-bf6b-4276-8689-813eafbea479).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801.

MLA Handbook (7^th Edition):

Madon, Marta. “Characterisation of the imprinted genes in mouse, Grb10 and Dlk1.” 2012. Web. 20 Jan 2021.

Vancouver:

Madon M. Characterisation of the imprinted genes in mouse, Grb10 and Dlk1. [Internet] [Doctoral dissertation]. University of Bath; 2012. [cited 2021 Jan 20]. Available from: https://researchportal.bath.ac.uk/en/studentthesis/characterisation-of-the-imprinted-genes-in-mouse(3b309746-bf6b-4276-8689-813eafbea479).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801.

Council of Science Editors:

Madon M. Characterisation of the imprinted genes in mouse, Grb10 and Dlk1. [Doctoral Dissertation]. University of Bath; 2012. Available from: https://researchportal.bath.ac.uk/en/studentthesis/characterisation-of-the-imprinted-genes-in-mouse(3b309746-bf6b-4276-8689-813eafbea479).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.557801

Louisiana State University

4. Ye, An. PEG3 Functions as a Repressor for its Downstream Genes.

Degree: PhD, 2016, Louisiana State University

URL: etd-06272016-122920 ; https://digitalcommons.lsu.edu/gradschool_dissertations/2261

► Paternally expressed gene 3 (Peg3) is an imprinted gene that encodes a protein with twelve C2H2 zinc finger domains. Thus, PEG3 protein is predicted to… (more)

▼ Paternally expressed gene 3 (Peg3) is an imprinted gene that encodes a protein with twelve C2H2 zinc finger domains. Thus, PEG3 protein is predicted to serve as a transcription factor that may regulate other gene expression. Chromatin immunoprecipitation (ChIP) experiment revealed a list of genes that are bound by PEG3, supporting PEG3 is a DNA-binding protein. Genome wide expression analysis using wild type and Peg3 knockout mouse models further suggested that a large number of genes were up-regulated in Peg3 knockout model, including imprinted genes and some tissue-specific genes, suggesting that PEG3 may mainly function as a repressor for its downstream genes. It is well known that most imprinted genes are organized into clusters (imprinted domains) to share cis-acting elements which can regulate imprinted gene expression. However, in Peg3 imprinted domain, one of my studies suggested that two oppositely imprinted genes in Peg3 imprinted domain could interact through their gene products rather than shared cis regulatory elements. According to the results, paternally expressed Peg3 controls maternally expressed Zim1 as a trans factor. Removing PEG3 resulted in elevated expression of Zim1, thus PEG3 should serve as a repressor for Zim1. ChIP experiment further suggested that PEG3 might repress Zim1 expression through SETDB1/KAP1-driven H3K9me3 mechanism. Subsequent ChIP-seq analysis using mouse embryonic fibroblast (MEF) cells further identified 16 target genes as PEG3 downstream genes. Interestingly, most of these genes showed high level of expression in oocyte, in which Peg3 is not expressed. Furthermore, qRT-PCR analysis confirmed that PEG3 mainly functions as a repressor for these downstream genes. In addition, electromobility shift assay (EMSA) and the luciferase reporter assay further demonstrated that PEG3 can directly bind to H19-ICR to repress H19 expression. Overall, the research presented in this dissertation advances our understanding of the repression function of PEG3 protein and its potential tumor suppressor function linked to its downstream genes.

Subjects/Keywords: Genomic imprinting; Peg3; H19

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Ye, A. (2016). PEG3 Functions as a Repressor for its Downstream Genes. (Doctoral Dissertation). Louisiana State University. Retrieved from etd-06272016-122920 ; https://digitalcommons.lsu.edu/gradschool_dissertations/2261

Chicago Manual of Style (16^th Edition):

Ye, An. “PEG3 Functions as a Repressor for its Downstream Genes.” 2016. Doctoral Dissertation, Louisiana State University. Accessed January 20, 2021. etd-06272016-122920 ; https://digitalcommons.lsu.edu/gradschool_dissertations/2261.

MLA Handbook (7^th Edition):

Ye, An. “PEG3 Functions as a Repressor for its Downstream Genes.” 2016. Web. 20 Jan 2021.

Vancouver:

Ye A. PEG3 Functions as a Repressor for its Downstream Genes. [Internet] [Doctoral dissertation]. Louisiana State University; 2016. [cited 2021 Jan 20]. Available from: etd-06272016-122920 ; https://digitalcommons.lsu.edu/gradschool_dissertations/2261.

Council of Science Editors:

Ye A. PEG3 Functions as a Repressor for its Downstream Genes. [Doctoral Dissertation]. Louisiana State University; 2016. Available from: etd-06272016-122920 ; https://digitalcommons.lsu.edu/gradschool_dissertations/2261

Cornell University

5. Wang, Xu. Genomic Imprinting And X Chromosome Inactivation In The Mouse.

Degree: PhD, Genetics, 2011, Cornell University

URL: http://hdl.handle.net/1813/30738

► Genomic imprinting is a special form of epigenetic modification of the genome in which gene expression differs in an allele-specific manner depending on the parent-oforigin.… (more)

▼ Genomic imprinting is a special form of epigenetic modification of the genome in which gene expression differs in an allele-specific manner depending on the parent-oforigin. The degree of imprinting is often tissue- and/or developmental stage-specific, and may be altered in some diseases including cancer. To date, 99 genes have been shown to undergo genomic imprinting in mouse, and 60 are imprinted in humans, with an overlapping set of 43 imprinted in both species. This list is far from complete, and obtaining an exhaustive identification of imprinted genes would expand our understanding of the regulation and evolution of the phenomenon. To search for novel imprinted genes, I applied custom SNP microarray and Illumina mRNA sequencing technologies to the transcriptomes of reciprocal F1 mouse brains and placentas. In brain, I identified 26 genes with parent-of-origin dependent differential allelic expression. Pyrosequencing verified 17 of them, including three novel imprinted genes. In placenta, I confirmed the imprinting status of 23 known imprinted genes, and found that 12 genes reported previously to be imprinted in other tissues are also imprinted in placenta. Through a well-replicated design using an orthogonal allelicexpression technology, I verified five novel imprinted genes that were not previously known to be imprinted in mouse. After repeated application to multiple tissues and developmental stages this approach will yield a complete catalog of imprinted genes, shedding light on the mechanism and evolution of imprinted genes and diseases associated with genomic imprinting. X-inactivation in female eutherian mammals has long been considered to occur at random in embryonic and postnatal tissues. After RNA-seq data revealed what appeared to be a chromosome-wide bias toward under-expression of paternal alleles in mouse tissue, I applied pyrosequencing to mouse brain cDNA samples from reciprocal cross F1 progeny of divergent strains, and found a small but consistent and highly statistically significant tendency to under-express the paternal X chromosome. Allelic bias in expression is also influenced by the sampling effect of X inactivation and by cis-acting regulatory variation, and for each gene we quantified the contributions of these effects in two different strain combinations while controlling for variability in Xce alleles. Advisors/Committee Members: Clark, Andrew (chair), Siepel, Adam Charles (committee member), Barbash, Daniel A. (committee member), Mezey, Jason G. (committee member).

Subjects/Keywords: Genomic imprinting; X chromosome inactivation; reciprocal cross

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Wang, X. (2011). Genomic Imprinting And X Chromosome Inactivation In The Mouse. (Doctoral Dissertation). Cornell University. Retrieved from http://hdl.handle.net/1813/30738

Chicago Manual of Style (16^th Edition):

Wang, Xu. “Genomic Imprinting And X Chromosome Inactivation In The Mouse.” 2011. Doctoral Dissertation, Cornell University. Accessed January 20, 2021. http://hdl.handle.net/1813/30738.

MLA Handbook (7^th Edition):

Wang, Xu. “Genomic Imprinting And X Chromosome Inactivation In The Mouse.” 2011. Web. 20 Jan 2021.

Vancouver:

Wang X. Genomic Imprinting And X Chromosome Inactivation In The Mouse. [Internet] [Doctoral dissertation]. Cornell University; 2011. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1813/30738.

Council of Science Editors:

Wang X. Genomic Imprinting And X Chromosome Inactivation In The Mouse. [Doctoral Dissertation]. Cornell University; 2011. Available from: http://hdl.handle.net/1813/30738

National University of Ireland – Galway

6. Tuteja, Reetu. Molecular evolution of imprinted, orphan and De novo genes in plant genomes .

Degree: 2016, National University of Ireland – Galway

URL: http://hdl.handle.net/10379/5786

► A range of different genetic processes can facilitate species-specific adaptations. These include orphan genes and genes subject to genomic imprinting. All organisms are known to… (more)

▼ A range of different genetic processes can facilitate species-specific adaptations. These include orphan genes and genes subject to genomic imprinting. All organisms are known to contain unique genes that have no recognizable homolog in other lineages. These genes are known as orphan genes. Genomic imprinting refers to a phenomenon independent of Mendelian genetics where only one allele is actively expressed depending on its parent of origin. Both processes have been argued to play key roles in plant evolution but their molecular and evolutionary biology is poorly characterized, largely due to the fact that both orphan genes and imprinted genes have only been identified from a handful of model plant species. In this thesis, I have identified orphan genes in the genomes of two crop species, Camelina sativa and Sorghum bicolor. Camelina sativa is an oilseed crop of the Brassicaceae family, whereas Sorghum bicolor is the fifth most important cereal crop belonging to the Poaceae family. Orphan genes identified in these two important crops are important sets of genes that may have played a role in acquiring adaptation to different environmental conditions and other unique characteristics to these species. In addition, a set of novel chimeric open reading frames (ORFs) is identified in Cajanus cajan which is another important food crop. The cytoplasmic male sterility (CMS) trait in plants is often associated with chimeric ORFs that are the products of mitochondrial genome rearrangements and can cause pollen abortion. The novel chimeric ORFs identified represent the most promising candidates for CMS-related mitochondrial rearrangements in Cajanus cajan. Therefore, my research on newly originated genes in agronomically important crops not only has meaningful evolutionary implications for the fundamental biology of species but can also assist plant breeding. To further understand the evolution of plant imprinted genes and critically assess theories concerning their evolution and origins, I assessed the level of positive selection in orthologs of known Arabidopsis thaliana imprinted genes. Orthologs of imprinted genes were extracted from an orthology database developed in this Thesis from 34 sequenced Viridiplantae species. The results suggested a significant elevated level of Arabidopsis thaliana-specific positive selection in Arabidopsis thaliana imprinted paternally expressed genes (iPEGs). Most of the positively selected sites identified in imprinted genes showed fixation in Arabidopsis thaliana population data. As positive selection may drive the fixation of beneficial traits within a population, imprinted genes that showed fixation of positively selected sites are the best candidates for further functional studies. Genomic imprinting in plants is identified to be mainly restricted to the seed endosperm. Genome-wide allele-specific expression analysis conducted in this thesis using a F1 triploid hybrid system demonstrates that altering the genome dosage can induce genomic imprinting in plant tissues (in embryos)… Advisors/Committee Members: Spillane, Charles (advisor).

Subjects/Keywords: Orphan genes; Genomic imprinting; Natural science

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Tuteja, R. (2016). Molecular evolution of imprinted, orphan and De novo genes in plant genomes . (Thesis). National University of Ireland – Galway. Retrieved from http://hdl.handle.net/10379/5786

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Tuteja, Reetu. “Molecular evolution of imprinted, orphan and De novo genes in plant genomes .” 2016. Thesis, National University of Ireland – Galway. Accessed January 20, 2021. http://hdl.handle.net/10379/5786.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Tuteja, Reetu. “Molecular evolution of imprinted, orphan and De novo genes in plant genomes .” 2016. Web. 20 Jan 2021.

Vancouver:

Tuteja R. Molecular evolution of imprinted, orphan and De novo genes in plant genomes . [Internet] [Thesis]. National University of Ireland – Galway; 2016. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10379/5786.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Tuteja R. Molecular evolution of imprinted, orphan and De novo genes in plant genomes . [Thesis]. National University of Ireland – Galway; 2016. Available from: http://hdl.handle.net/10379/5786

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Louisiana State University

7. Frey, Wesley D. Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care.

Degree: PhD, 2015, Louisiana State University

URL: etd-08252015-181738 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4075

► Genomic imprinting is characterized by the restrictive expression of a gene from one of the two inherited parental alleles. Many of these genes have been… (more)

▼ Genomic imprinting is characterized by the restrictive expression of a gene from one of the two inherited parental alleles. Many of these genes have been implicated in neonatal growth and mammalian reproduction. The two studies discussed in this dissertation focus on the tissue-specific contributions of Paternally Expressed Gene 3 (Peg3) on lactation and maternal care as well as the regulation of this gene through an antisense RNA (APeg3). In the first study, a conditional knockout allele has been developed to further characterize these known functions of Peg3 in a tissue-specific manner. The mutant line was first crossed with germline Cre, producing a progeny that displayed growth retardation phenotypes consistent with previous reports. The mutant line was then crossed individually with MMTV- and Nkx2.1-Cre lines to test Peg3’s roles in the mammary gland and hypothalamus, respectively. The results indicate that the milk letdown process was impaired in the nursing females with the Peg3 mutation in the mammary gland, but not in the hypothalamus. In contrast, one of the maternal-caring behaviors, nest-building, was interrupted in the females with the mutation in both MMTV- and Nkx2.1-driven lines. Overall, this is the first study to introduce a conditional knockout allele of Peg3 and to further dissect its contribution to mammalian reproduction in a tissue-specific manner. In the second study, we investigate the functions of APeg3, a gene that lies antisense of the Peg3 3’-untranslated region, with comparative genomics and cell line-based approaches. APeg3 transcript displays a high degree of sequence conservation among placental mammals, but without any obvious open reading frame, suggesting APeg3 may have been selected as a ncRNA gene during eutherian evolution. RNA secondary structure analyses also support a ncRNA function. The results from cell line-based transfection experiments demonstrate APeg3 has the potential to down-regulate the mRNA and protein levels of Peg3. Overall, these results suggest that APeg3 has evolved as a ncRNA gene and controls the function of its sense gene Peg3. When combined, the two studies in this dissertation offer new insight into the regulation and function of the imprinted transcription factor Peg3.

Subjects/Keywords: Antisense RNA; Epigenetics; Genetics; Biology; Genomic Imprinting

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APA (6^th Edition):

Frey, W. D. (2015). Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care. (Doctoral Dissertation). Louisiana State University. Retrieved from etd-08252015-181738 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4075

Chicago Manual of Style (16^th Edition):

Frey, Wesley D. “Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care.” 2015. Doctoral Dissertation, Louisiana State University. Accessed January 20, 2021. etd-08252015-181738 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4075.

MLA Handbook (7^th Edition):

Frey, Wesley D. “Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care.” 2015. Web. 20 Jan 2021.

Vancouver:

Frey WD. Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care. [Internet] [Doctoral dissertation]. Louisiana State University; 2015. [cited 2021 Jan 20]. Available from: etd-08252015-181738 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4075.

Council of Science Editors:

Frey WD. Antisense Regulation and Tissue-specific Roles of Peg3 in Lactation and Maternal Care. [Doctoral Dissertation]. Louisiana State University; 2015. Available from: etd-08252015-181738 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4075

8. Magalhães, Hélida Regina. Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore.

Degree: Mestrado, Genética, 2009, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/ ;

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O comportamento materno é essencial para a sobrevivência e desenvolvimento do filhote mamífero. Durante a prenhez, as fêmeas recebem estímulos sensoriais e hormonais capazes de… (more)

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O comportamento materno é essencial para a sobrevivência e desenvolvimento do filhote mamífero. Durante a prenhez, as fêmeas recebem estímulos sensoriais e hormonais capazes de modificar e preparar o cérebro da mãe para o início dos padrões de comportamento materno (por exemplo, aumentando o número neurônios produtores de oxitocina no hipotálamo). Estudos têm identificado o hipotálamo como o principal responsável por estas mudanças, porém outras áreas do cérebro também estão envolvidas no processo do comportamento materno. Peg3, um gene marcado paternalmente expresso, é conhecido por controlar o comportamento materno em camundongos. Fêmeas nocautes para o gene Peg3 falham em aumentar a ingestão de alimentos, na ejeção de leite e em algumas atividades maternais, como placentofagia e construção do ninho. Este estudo teve como objetivo determinar os padrões de metilação da região diferencialmente metilada de Peg3 (Peg3DMR) de animais da raça Nelore de bovinos em diversas áreas do cérebro. Amostras foram coletadas das seguintes áreas: córtex frontal, occipital, temporal e parietal, hipocampo e hipotálamo, num total de 8 animais (4 machos e 4 fêmeas). O padrão de metilação destas amostras foi analisado pelo protocolo COBRA (do inglês, Combined Bisulfite-Restriction Analysis), que combina a modificação do DNA por bissulfito de sódio, amplificação por PCR e digestão por enzima de restrição. Foram encontrados diferentes padrões de metilação entre as amostras, ocorrendo uma predominância de hipometilação entre as amostras do sexo masculino, e padrões mais variados nas amostras do sexo feminino. As variações nos padrões de metilação ocorreram de maneira mais marcante entre as amostras de uma mesma região cerebral de diferentes animais, do que entre as amostras de várias regiões de um mesmo animal. Os resultados indicam que pode haver uma variação no status de imprinting em nível populacional, porém estudos com um número maior de amostras são necessários para a verificação da significância estatística destas variações.

The maternal behavior is essential to survival and development of mammalian offspring. Throughout pregnancy, females receive sensory and hormonal stimuli which promote modifications and prepare the mothers brain to the onset of maternal behavior patterns (for example, by increasing numbers of neurons producing oxytocin in the hypothalamus). Studies have identified the hypothalamus as the main responsible for these changes, but other areas of the brain are also involved in the maternal behavior process. Peg3, an imprinted paternally expressed gene, is known to control maternal behavior in mice. Peg3 knockout females failed in increasing food intake, milk ejection and some maternal activities as placentofagia and nest building. This study aimed to determine the methylation patterns of the differently methylated region of Peg3 (DMR-Peg3) of animals from Nellore cattle breed in several areas of the brain. Samples were collected from the following areas of cattle brain: the frontal, occipital, temporal and parietal…

Advisors/Committee Members: Cardoso, Vera Lucia.

Subjects/Keywords: Bovinos.; Cattle.; Genomic imprinting; Imprinting genômico; Methylation; Metilação; Peg3; Peg3

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Magalhães, H. R. (2009). Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/ ;

Chicago Manual of Style (16^th Edition):

Magalhães, Hélida Regina. “Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore.” 2009. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/ ;.

MLA Handbook (7^th Edition):

Magalhães, Hélida Regina. “Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore.” 2009. Web. 20 Jan 2021.

Vancouver:

Magalhães HR. Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore. [Internet] [Masters thesis]. University of São Paulo; 2009. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/ ;.

Council of Science Editors:

Magalhães HR. Análise do padrão de metilação do gene Peg3 em diferentes regiões de cérebro de bovinos da raça Nelore. [Masters Thesis]. University of São Paulo; 2009. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-02032010-145407/ ;

University of Southern California

9. Fang, Fang. Identifying allele-specific DNA methylation in mammalian genomes.

Degree: PhD, Computational Biology and Bioinformatics, 2012, University of Southern California

URL: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/96610/rec/3331

► Among the most well-known functions of DNA methylation is in mediating imprinted gene expression by differentially marking specific regulatory regions on maternal and paternal alleles.… (more)

▼ Among the most well-known functions of DNA methylation is in mediating imprinted gene expression by differentially marking specific regulatory regions on maternal and paternal alleles. Imprinted genes are expressed from one of the two parental alleles in mammals, thereby rendering the organism functionally haploid. Imprinting has been tied to the evolution of placental mammals and defects in imprinting have been associated with human diseases. Although recent advances in genome sequencing have revolutionized the study of DNA methylation, existing methylome data remains largely untapped in the study of imprinting. We present a novel statistical model to describe allele-specific methylation (ASM) in data from high-throughput short-read bisulfite sequencing. Simulation results indicate technical specifications of existing methylome data, such as read length and coverage, are sufficient for full-genome ASM profiling based on our model. Because our method is independent of genotype, it is applicable to identify ASM in the context of genomic imprinting. ❧ We used our model to analyze methylomes for a diverse set of human cell types, including cultured and uncultured differentiated cells, embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs). Regions of ASM identified most consistently across methylomes are tightly connected with known imprinted genes and precisely delineate the boundaries of several known imprinting control regions. Novel predicted regions of ASM common to multiple cell types frequently mark ncRNA promoters and represent promising starting points for targeted validation. ❧ We also compared regions of ASM between uncultured mouse and human cells. Regions with both conserved sequence and ASM status between species show high concordance of known imprinted genes, adding more evidence for novel prediction of imprinted genes. The skewing of ASM associated imprinted genes in mouse agrees with the parental conflict theory, which hypothesizes that the evolution of genomic imprinting is inspired by the different interests of parental genes on the offspring growth. Furthermore, the variation of ASM between species shows that ASM set in parental germlines play more critical roles in regulating imprinting than those set in somatic cells. ❧ More generally, our model provides the analytical complement to cutting-edge experimental technologies for surveying ASM in specific cell types and across species. Advisors/Committee Members: Smith, Andrew D. (Committee Chair), Tavaré, Simon (Committee Member), Tavare, Simon (Committee Member), Pellegrini, Matteo (Committee Member), Hacia, Joseph G. (Committee Member).

Subjects/Keywords: allele-specific methylation; bisulfite sequencing; epigenetics; genomic imprinting; imprinting control regions

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Fang, F. (2012). Identifying allele-specific DNA methylation in mammalian genomes. (Doctoral Dissertation). University of Southern California. Retrieved from http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/96610/rec/3331

Chicago Manual of Style (16^th Edition):

Fang, Fang. “Identifying allele-specific DNA methylation in mammalian genomes.” 2012. Doctoral Dissertation, University of Southern California. Accessed January 20, 2021. http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/96610/rec/3331.

MLA Handbook (7^th Edition):

Fang, Fang. “Identifying allele-specific DNA methylation in mammalian genomes.” 2012. Web. 20 Jan 2021.

Vancouver:

Fang F. Identifying allele-specific DNA methylation in mammalian genomes. [Internet] [Doctoral dissertation]. University of Southern California; 2012. [cited 2021 Jan 20]. Available from: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/96610/rec/3331.

Council of Science Editors:

Fang F. Identifying allele-specific DNA methylation in mammalian genomes. [Doctoral Dissertation]. University of Southern California; 2012. Available from: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/96610/rec/3331

10. Araújo, Érica Sara Souza de. Estabilidade do controle epigenético em células humanas normais e transformadas.

Degree: Mestrado, Biologia (Genética), 2012, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072012-075646/ ;

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A epigenética aborda o controle da expressão gênica através de diversos fatores que agem sob a cromatina, os melhor estudados são a metilação do DNA… (more)

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A epigenética aborda o controle da expressão gênica através de diversos fatores que agem sob a cromatina, os melhor estudados são a metilação do DNA e a acetilação em histonas, relacionadas à repressão e ativação gênica, respectivamente. Em mamíferos, existem dois fenômenos epigenéticos interessantes: a inativação do cromossomo X (ICX) em fêmeas, que garante o equilíbrio transcricional gênico entre os sexos, e o imprinting genômico, caracterizado pela expressão monoalélica dependente da origem parental. No presente estudo, propusemos verificar a manutenção do controle epigenético em células humanas normais e transformadas em condições semelhantes de hipometilação do DNA e hiperacetilação em histonas (após uso das drogas 5-aza-2-\'deoxicitidina (5-aza-dC) e ácido valproico, respectivamente), através do monitoramento da expressão alelo-específica pelo uso de polimorfismos de única base presentes em regiões codificadoras. Em células normais houve manutenção da ICX e do imprinting genômico, enquanto que em células transformadas hipometiladas foram observadas indução de XIST, e perda de imprinting dos genes IGF2, H19 e PEG10. Observamos que ambas as drogas podem diminuir a expressão de DNMT1, e 5-aza-dC altera o equilíbrio entre acetilação e desacetilação da histona H4. Ainda, a ordem de adição dos reagentes ocasionou diferenças no nível de acetilação da histona H4 e na expressão gênica de XIST e PEG10. Nossos dados sugerem que: células humanas normais apresentam maior estabilidade do controle epigenético comparadas às células humanas transformadas, genes submetidos à ICX e ïmprintadosn̈ão apresentam diferenças na rigidez do controle de expressão, e a cascata de reação seguida após perturbação de marcas epigenéticas pode ser alterada dependendo da modificação inicial.

Epigenetics refers to mechanisms related to gene activity through conformational modifications in DNA without changes in the nucleotide sequence. Key players in the epigenetic control are DNA methylation and histone acetylation, which are related to gene activation and repression, respectively. Two striking epigenetic phenomena in mammalians are X chromosome inactivation (XCI) and genomic imprinting. XCI triggers the transcriptional silencing of all but one X chromosome in each female cell, while genomic imprinting is a process that leads to mono-allelic gene expression based on parental origin. In the present study, we intended to verify the maintenance of epigenetic control in normal and transformed human cells under the same conditions of epigenetic disturbance. For this purpose, 5-aza-2\'-deoxycytidine (5-aza-dC) and valproic acid (VPA) were used to cause DNA hypomethylation and histone hyperacetylation, respectively. By monitoring allelic-specific expression using single nucleotide polymorphisms present in coding regions, we were able to check the effects of the modifications in the expression pattern of imprinted or subjected to XCI genes. While in female normal cells XCI and genomic imprinting were not affected by VPA or 5-aza-dC treatments,…

Advisors/Committee Members: Carramaschi, Lygia da Veiga Pereira.

Subjects/Keywords: Células humanas; Genomic imprinting; Human cells; Imprinting genômico; Inativação do cromossomo X; X chromosome inactivation

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Araújo, �. S. S. d. (2012). Estabilidade do controle epigenético em células humanas normais e transformadas. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072012-075646/ ;

Chicago Manual of Style (16^th Edition):

Araújo, Érica Sara Souza de. “Estabilidade do controle epigenético em células humanas normais e transformadas.” 2012. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072012-075646/ ;.

MLA Handbook (7^th Edition):

Araújo, Érica Sara Souza de. “Estabilidade do controle epigenético em células humanas normais e transformadas.” 2012. Web. 20 Jan 2021.

Vancouver:

Araújo �SSd. Estabilidade do controle epigenético em células humanas normais e transformadas. [Internet] [Masters thesis]. University of São Paulo; 2012. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072012-075646/ ;.

Council of Science Editors:

Araújo �SSd. Estabilidade do controle epigenético em células humanas normais e transformadas. [Masters Thesis]. University of São Paulo; 2012. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072012-075646/ ;

11. Rios, Alvaro Fabricio Lopes. Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos.

Degree: PhD, Genética, 2007, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-03042008-155337/ ;

►

Epigenética é o ramo da biologia que estuda as características herdáveis não associadas a alterações na seqüência de nucleotídeos do DNA. Um dos principais processos… (more)

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Epigenética é o ramo da biologia que estuda as características herdáveis não associadas a alterações na seqüência de nucleotídeos do DNA. Um dos principais processos epigenético estudados é a metilação do DNA, a qual está associada a diversos mecanismos de regulação gênica, entre eles o imprinting (marcação) genômico. Esse tipo de regulação caracteriza-se pela expressão parental específica dos loci associados e à metilação diferencial em regiões regulatórias conhecidas como centros de imprinting (ICs). Alterações desse mecanismo estão relacionadas com síndromes de hipo e hipercrescimento em humanos e animais domésticos, desenvolvimento de tumores, doenças associadas com alterações de comportamento e já foram detectadas em indivíduos concebidos por técnicas de reprodução assistida e em células-tronco embrionárias derivadas de diferentes espécies. Essas duas últimas evidenciam que genes marcados são particularmente lábeis ao estresse induzido por manipulação celular in vitro. As possíveis causas dessas epimutações não estão completamente esclarecidas. Os bovinos parecem ser um melhor modelo comparativo no estudo dessas alterações, evitando a utilização de embriões humanos. No entanto, existem poucas seqüências descritas de genes marcados nessa espécie. No presente estudo, duas regiões diferencialmente metiladas (H19DMR e KvDMR1) foram caracterizadas em bovinos em termos de elementos conservados (EC), enriquecimento de elementos repetitivos (ERs) e padrões de metilação. A análise de ECs e ERs foi realizada utilizandose os programas VISTA e RepeatMasker, respectivamente. Os padrões de metilação para ambas as DMRs foram analisados utilizando-se o ensaio de COBRA (do inglês COmbined Bisulfite Restriction Analysis) em DNA de sangue periférico e espermatozóides em amostras de animais concebidos in vivo. Também foi pesquisada a possível ocorrência de perda de imprinting em uma amostra de quatro animais clonados. A análise dos resultados indicou que os padrões de imprinting observados nas DMRs bovinas estudadas são semelhantes aos descritos para regiões homólogas em outras espécies de mamíferos. As características genômicas mostraram uma maior similaridade nas regiões analisadas entre bovinos e humanos do que entre humanos e camundongos. Não foram encontradas diferenças entre o padrão de imprinting de animais gerados naturalmente ou por transferência nuclear. Os resultados desse trabalho poderão auxiliar em futuras pesquisas de genes marcados em bovinos, além de contribuir para o melhoramento na utilização dessa espécie como modelo de comparação para desenvolvimento humano.

Epigenetics is the branch of biology which studies heritable changes in genome function that occur without a change in nucleotide sequence within the DNA. One of the most studied epigenetic process is the DNA methylation, which is associated with several gene regulation mechanisms such as genomic imprinting. This type of regulation is characterized by parental specific gene expression and differential methylation of the associated loci in regulatory…

Advisors/Committee Members: Ramos, Ester Silveira, Simoes, Zila Luz Paulino.

Subjects/Keywords: Clonagem; Clonagem; Desenvolvimento; Development; Genomic Imprinting; H19DMR; H19DMR; Imprinting genômico; KvDMR1; KvDMR1.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Rios, A. F. L. (2007). Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos. (Doctoral Dissertation). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/17/17135/tde-03042008-155337/ ;

Chicago Manual of Style (16^th Edition):

Rios, Alvaro Fabricio Lopes. “Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos.” 2007. Doctoral Dissertation, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-03042008-155337/ ;.

MLA Handbook (7^th Edition):

Rios, Alvaro Fabricio Lopes. “Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos.” 2007. Web. 20 Jan 2021.

Vancouver:

Rios AFL. Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos. [Internet] [Doctoral dissertation]. University of São Paulo; 2007. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-03042008-155337/ ;.

Council of Science Editors:

Rios AFL. Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos. [Doctoral Dissertation]. University of São Paulo; 2007. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-03042008-155337/ ;

Dalhousie University

12. McEachern, Lori A. INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER.

Degree: PhD, Department of Biology, 2010, Dalhousie University

URL: http://hdl.handle.net/10222/13036

► Transgenic organisms are a valuable tool for studying epigenetics, as they provide significant insight into the evolutionary conservation of epigenetic control sequences, the interacting proteins,… (more)

▼ Transgenic organisms are a valuable tool for studying epigenetics, as they provide significant insight into the evolutionary conservation of epigenetic control sequences, the interacting proteins, and the underlying molecular mechanisms. Paramutation is an epigenetic phenomenon in which the epigenetic status and expression level of one allele is heritably altered after pairing with another. At the b1 locus in maize, a control region consisting of seven 853 bp tandem repeats is required for paramutation. To study the conservation of the epigenetic mechanisms underlying maize b1 paramutation, I created transgenic Drosophila carrying the maize b1 control region flanked by FRT sites and adjacent to the Drosophila white reporter gene. The maize b1 tandem repeats caused epigenetic silencing in Drosophila, as white expression consistently increased following repeat removal. A single copy of the tandem repeat sequence was sufficient to cause silencing, and silencing strength increased as the number of repeats increased. Trans interactions, such as pairing-sensitive silencing, were also observed and appear to require a threshold number of b1 tandem repeats, similar to paramutation in maize. Analysis of transcription from the repeats showed that the b1 tandem repeats are transcribed from both strands in Drosophila, as they are in maize. Bidirectional transcription was found to extend to the regions flanking the repeats, and persisted in “repeats-out” transgenes following repeat removal. However, aberrant transcription was lost when a zero-repeat transgene was moved to a new genomic position, suggesting that it may be due to an epigenetic mark that is retained from the previous silenced state. A search for modifiers of b1 repeat-mediated silencing demonstrated that Polycomb group proteins are involved. Together, these results indicate considerable conservation of an epigenetic silencing process between the plant and animal kingdoms. Genomic imprinting is a related epigenetic process in which parent-specific epigenetic states are inherited and maintained in progeny. The conservation of epigenetic mechanisms was further explored via an in-depth review of the molecular mechanisms underlying genomic imprinting in plants, mammals and insects, and identification of potentially imprinted genes in Drosophila by microarray analysis. Advisors/Committee Members: Dr. Lori Wallrath (external-examiner), Dr. Hal Whitehead (graduate-coordinator), Dr. Bill Pohajdak (thesis-reader), Dr. Ian Meinertzhagen (thesis-reader), Dr. Vett Lloyd (thesis-supervisor), Not Applicable (ethics-approval), Yes (manuscripts), Yes (copyright-release).

Subjects/Keywords: Epigenetics; Drosophila melanogaster; Paramutation; Tandem repeats; Transcription; Silencing; Genomic imprinting

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

McEachern, L. A. (2010). INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER. (Doctoral Dissertation). Dalhousie University. Retrieved from http://hdl.handle.net/10222/13036

Chicago Manual of Style (16^th Edition):

McEachern, Lori A. “INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER.” 2010. Doctoral Dissertation, Dalhousie University. Accessed January 20, 2021. http://hdl.handle.net/10222/13036.

MLA Handbook (7^th Edition):

McEachern, Lori A. “INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER.” 2010. Web. 20 Jan 2021.

Vancouver:

McEachern LA. INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER. [Internet] [Doctoral dissertation]. Dalhousie University; 2010. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10222/13036.

Council of Science Editors:

McEachern LA. INTER-KINGDOM EPIGENETICS: CHARACTERIZATION OF MAIZE B1 TANDEM REPEAT-MEDIATED SILENCING IN DROSOPHILA MELANOGASTER. [Doctoral Dissertation]. Dalhousie University; 2010. Available from: http://hdl.handle.net/10222/13036

University of Hong Kong

13. 周基元. Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data.

Degree: 2009, University of Hong Kong

URL: http://hdl.handle.net/10722/56609

Subjects/Keywords: Genomic imprinting - Statistical methods.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

周基元. (2009). Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/56609

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 (16^th Edition):

周基元. “Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data.” 2009. Thesis, University of Hong Kong. Accessed January 20, 2021. http://hdl.handle.net/10722/56609.

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 (7^th Edition):

周基元. “Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data.” 2009. Web. 20 Jan 2021.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Vancouver:

周基元. Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data. [Internet] [Thesis]. University of Hong Kong; 2009. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10722/56609.

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:

周基元. Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data. [Thesis]. University of Hong Kong; 2009. Available from: http://hdl.handle.net/10722/56609

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete
Not specified: Masters Thesis or Doctoral Dissertation

Virginia Commonwealth University

14. Gygax, Derek. Comprehensive Review on the Existence of Genomic Imprinting in Aves.

Degree: MS, Human Genetics, 2014, Virginia Commonwealth University

URL: https://doi.org/10.25772/97C5-2M97 ; https://scholarscompass.vcu.edu/etd/3375

► Genomic imprinting results in monoallelic parent-of-origin gene expression. Therian mammals show conclusive evidence for imprinting, while the evidence in Aves is conflicting. It’s unclear if… (more)

Subjects/Keywords: Genomic Imprinting; Aves; Medical Genetics; Medical Sciences; Medicine and Health Sciences

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APA (6^th Edition):

Gygax, D. (2014). Comprehensive Review on the Existence of Genomic Imprinting in Aves. (Thesis). Virginia Commonwealth University. Retrieved from https://doi.org/10.25772/97C5-2M97 ; https://scholarscompass.vcu.edu/etd/3375

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Gygax, Derek. “Comprehensive Review on the Existence of Genomic Imprinting in Aves.” 2014. Thesis, Virginia Commonwealth University. Accessed January 20, 2021. https://doi.org/10.25772/97C5-2M97 ; https://scholarscompass.vcu.edu/etd/3375.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Gygax, Derek. “Comprehensive Review on the Existence of Genomic Imprinting in Aves.” 2014. Web. 20 Jan 2021.

Vancouver:

Gygax D. Comprehensive Review on the Existence of Genomic Imprinting in Aves. [Internet] [Thesis]. Virginia Commonwealth University; 2014. [cited 2021 Jan 20]. Available from: https://doi.org/10.25772/97C5-2M97 ; https://scholarscompass.vcu.edu/etd/3375.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Gygax D. Comprehensive Review on the Existence of Genomic Imprinting in Aves. [Thesis]. Virginia Commonwealth University; 2014. Available from: https://doi.org/10.25772/97C5-2M97 ; https://scholarscompass.vcu.edu/etd/3375

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Connecticut

15. Friss, Amy F. Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human.

Degree: MS, Genetics and Genomics, 2011, University of Connecticut

URL: https://opencommons.uconn.edu/gs_theses/90

► Genomic imprinting is an epigenetic phenomenon resulting in differential gene expression based on parental origin. Recently, transketolase-like 1 (TKTL1) has been identified as an… (more)

Subjects/Keywords: Genomic Imprinting; Epigenetics; Transketolase-like 1; Pentose Phosphate Pathway; Autism; Overexpression

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APA (6^th Edition):

Friss, A. F. (2011). Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human. (Masters Thesis). University of Connecticut. Retrieved from https://opencommons.uconn.edu/gs_theses/90

Chicago Manual of Style (16^th Edition):

Friss, Amy F. “Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human.” 2011. Masters Thesis, University of Connecticut. Accessed January 20, 2021. https://opencommons.uconn.edu/gs_theses/90.

MLA Handbook (7^th Edition):

Friss, Amy F. “Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human.” 2011. Web. 20 Jan 2021.

Vancouver:

Friss AF. Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human. [Internet] [Masters thesis]. University of Connecticut; 2011. [cited 2021 Jan 20]. Available from: https://opencommons.uconn.edu/gs_theses/90.

Council of Science Editors:

Friss AF. Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human. [Masters Thesis]. University of Connecticut; 2011. Available from: https://opencommons.uconn.edu/gs_theses/90

Harvard University

16. Ho-Shing, Olivia E. Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain.

Degree: PhD, 2019, Harvard University

URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029525

►

Genomic imprinting is a form of epigenetic inheritance that causes preferential expression of one allele based on its parent of origin. Imprinted expression plays crucial… (more)

Subjects/Keywords: genomic imprinting; Bcl-xL; synaptic plasticity; visual cortex; parent-of-origin

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APA (6^th Edition):

Ho-Shing, O. E. (2019). Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029525

Chicago Manual of Style (16^th Edition):

Ho-Shing, Olivia E. “Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain.” 2019. Doctoral Dissertation, Harvard University. Accessed January 20, 2021. http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029525.

MLA Handbook (7^th Edition):

Ho-Shing, Olivia E. “Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain.” 2019. Web. 20 Jan 2021.

Vancouver:

Ho-Shing OE. Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain. [Internet] [Doctoral dissertation]. Harvard University; 2019. [cited 2021 Jan 20]. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029525.

Council of Science Editors:

Ho-Shing OE. Cell Type-Specific Analysis of Bcl-xL Genomic Imprinting in the Mouse Brain. [Doctoral Dissertation]. Harvard University; 2019. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029525

University of Leicester

17. Clayton, Crisenthiya Indunil. Methylation and genomic imprinting in the bumblebee, Bombus terrestris.

Degree: PhD, 2013, University of Leicester

URL: https://figshare.com/articles/Methylation_and_genomic_imprinting_in_the_bumblebee_Bombus_terrestris/10141598 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568184

► Genomic imprinting, the parent-of-origin specific silencing of alleles, plays an important role in phenotypic plasticity and consequently evolution. The leading explanation for genomic imprinting is… (more)

▼ Genomic imprinting, the parent-of-origin specific silencing of alleles, plays an important role in phenotypic plasticity and consequently evolution. The leading explanation for genomic imprinting is Haig's conflict theory, which suggests that alleles from each parent have evolved under different selectional pressures, resulting in the differential expression of patrigenes and matrigenes. Previous studies have mainly used mammals and flowering plants to test Haig’s theory. However, there is a lack of independent evidence to support the theory. My PhD thesis attempts to conduct an independent test of Haig’s conflict theory using buff tailed bumblebee Bombus terrestris. A methylation system to facilitate genomic imprinting has not been found in this species. Therefore the first aim of the study was to establish the presence of a functional methylation system in B. terrestris before testing Haig's conflict theory using worker reproduction in queen-less colonies. The initial finding is that a methylation system exists in B. terrestris. The next study, investigating the presence of methylated genes, revealed differential methylation patterns in caste and life stages. Finally, genes involved with worker reproduction in a range of social insects were identified, but distinguishing the matrigene and the patrigene for each gene was unsuccessful. Therefore the final study investigating the presence of imprinted genes in B. terrestris and whether they conform to the expression patterns hypothesised by Haig’s conflict theory could not be analysed. Although this study did not provide conclusive evidence to support Haig’s conflict theory, the presence of methylation in genes involved with worker reproduction in reproducing and non-reproducing B. terrestris workers suggests that further analysis is needed. With adequate evidence, proving Haig’s conflict theory will not only expand our knowledge of invertebrate methylation, but also our understanding of conflict within social insect societies and our knowledge of how genomic imprinting affects phenotypic plasticity.

Subjects/Keywords: 595.79; Genomic imprinting; Methylation; Conflict theory; Bombus terrestris

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APA (6^th Edition):

Clayton, C. I. (2013). Methylation and genomic imprinting in the bumblebee, Bombus terrestris. (Doctoral Dissertation). University of Leicester. Retrieved from https://figshare.com/articles/Methylation_and_genomic_imprinting_in_the_bumblebee_Bombus_terrestris/10141598 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568184

Chicago Manual of Style (16^th Edition):

Clayton, Crisenthiya Indunil. “Methylation and genomic imprinting in the bumblebee, Bombus terrestris.” 2013. Doctoral Dissertation, University of Leicester. Accessed January 20, 2021. https://figshare.com/articles/Methylation_and_genomic_imprinting_in_the_bumblebee_Bombus_terrestris/10141598 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568184.

MLA Handbook (7^th Edition):

Clayton, Crisenthiya Indunil. “Methylation and genomic imprinting in the bumblebee, Bombus terrestris.” 2013. Web. 20 Jan 2021.

Vancouver:

Clayton CI. Methylation and genomic imprinting in the bumblebee, Bombus terrestris. [Internet] [Doctoral dissertation]. University of Leicester; 2013. [cited 2021 Jan 20]. Available from: https://figshare.com/articles/Methylation_and_genomic_imprinting_in_the_bumblebee_Bombus_terrestris/10141598 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568184.

Council of Science Editors:

Clayton CI. Methylation and genomic imprinting in the bumblebee, Bombus terrestris. [Doctoral Dissertation]. University of Leicester; 2013. Available from: https://figshare.com/articles/Methylation_and_genomic_imprinting_in_the_bumblebee_Bombus_terrestris/10141598 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568184

University of Western Ontario

18. Velker, Brenna A. M. The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System.

Degree: 2011, University of Western Ontario

URL: https://ir.lib.uwo.ca/etd/177

► Genomic imprinting is a specialized transcriptional mechanism resulting in the unequal expression of alleles based on their parent-of-origin. Imprinted genes are critical for embryonic and… (more)

▼ Genomic imprinting is a specialized transcriptional mechanism resulting in the unequal expression of alleles based on their parent-of-origin. Imprinted genes are critical for embryonic and fetal development and their dysregulation is linked to a group of human diseases called imprinting disorders, including Beckwith-Wiedemann Syndrome, Angelman Syndrome and Silver-Russell Syndrome. Two critical phases of genomic imprinting exist. The acquisition phase occurs in developing germ cells, asynchronously for different imprinted loci, while the maintenance phase takes place during preimplantation development, while the rest of the genome is undergoing demethylation. Increased frequencies of human imprinting disorders are observed in children following the use of assisted reproductive technologies (ARTs). The timing of ARTs during the critical periods of imprint acquisition and maintenance provides a mechanism for their disruption. At the onset of this project, I hypothesized that superovulation alone, and embryo culture alone, disrupt imprinting acquisition and maintenance mechanisms, respectively, and that disruption of genomic imprinting correlates with rates of preimplantation embryo development. I have determined the effects of superovulation, and embryo culture using five commercially available media, on the key imprinted loci H19, Snrpn, Peg3, Kcnq1ot1 and Peg1/Mest, and correlated rates of preimplantation development with loss of genomic imprinting. Superovulation alone disrupted genomic imprinting, in a dose-dependent manner. Embryo culture in all media was sub-optimal in maintaining genomic imprints. Embryos developing at a moderate pace showed levels of imprinted methylation most similar to in vivo-derived controls. In addition, these studies suggest that superovulation does not affect the acquisition of imprinted methylation, but rather maintenance throughout preimplantation development. Data presented in this thesis suggests that superovulation disrupts one or more key maternal-effects genes necessary for imprint maintenance, and that superovulation and embryo culture disrupt the same pathway. Future studies delineating the mechanisms mediating embryonic adaptation to the environmental insult caused by ARTs, and improving current techniques to minimize the amount of adaptation required for embryo growth and survival outside the female reproductive tract, will lead to a decreased incidence of disease and improve the long term health of children born following ARTs.

Subjects/Keywords: Genomic Imprinting; Assisted Reproductive Technologies; Superovulation; Embryo Culture; Epigenetics; Developmental Biology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Velker, B. A. M. (2011). The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System. (Thesis). University of Western Ontario. Retrieved from https://ir.lib.uwo.ca/etd/177

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Velker, Brenna A M. “The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System.” 2011. Thesis, University of Western Ontario. Accessed January 20, 2021. https://ir.lib.uwo.ca/etd/177.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Velker, Brenna A M. “The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System.” 2011. Web. 20 Jan 2021.

Vancouver:

Velker BAM. The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System. [Internet] [Thesis]. University of Western Ontario; 2011. [cited 2021 Jan 20]. Available from: https://ir.lib.uwo.ca/etd/177.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Velker BAM. The Effects of Superovulation and Embryo Culture on Genomic Imprinting in a Mouse Model System. [Thesis]. University of Western Ontario; 2011. Available from: https://ir.lib.uwo.ca/etd/177

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Pennsylvania

19. Lin, Shu. Roles of Protein Factors in Regulation of Imprinted Gene Expression.

Degree: 2011, University of Pennsylvania

URL: https://repository.upenn.edu/edissertations/1546

► Genomic imprinting is an important epigenetic phenomenon in which only one parental allele is expressed. Allele-specific DNA methylation often exists in imprinted control regions (ICRs)… (more)

▼ Genomic imprinting is an important epigenetic phenomenon in which only one parental allele is expressed. Allele-specific DNA methylation often exists in imprinted control regions (ICRs) and is required for properly imprinted expression. Imprinting control in mammals involves an insulator mechanism that requires CTCF or a long ncRNA silencing mechanism. In this dissertation, I studied functions of protein factors in genomic imprinting. First, methylated DNA binding proteins are involved in maintenance of DNA methylation at imprinted loci and required for selective silencing of one specific allele. We showed that MBD3 was localized to paternal H19 ICR. By RNA interference experiments in preimplantation embryos, we showed that MBD3 and its NuRD complex cofactor MTA2 were required for maintenance of the paternal methylation at the H19 ICR, and for silencing of the paternal H19. MTA2 is also required for Peg3 allelic expression. These results demonstrate new roles of the NuRD complex in genomic imprinting. Moreover, I showed allele-specific associations of MBD1 and Kaiso with imprinted loci, implicating functional requirements of these proteins in imprinted regulation. Second, I demonstrated colocalization of CTCF and the cohesin complex at three imprinted loci. CTCF and cohesins preferentially bind to the unmethylated allele of H19 ICR and Gtl2 DMR, and both alleles of KvDMR1 in mouse embryonic fibroblast cells (MEFs). To determine the functional importance of CTCF and cohesins, CTCF and cohesins were depleted in MEFs. Monoallelic expression of imprinted genes was maintained. However, mRNA levels for imprinted genes were typically increased; for H19 and Igf2 the increased expression was independent of the CTCF binding sites in the ICR. These experiments demonstrate an unappreciated role for CTCF and cohesins in the repression of imprinted genes in somatic cells. Finally, I have established F1 hybrid trophoblast stem (TS) cell lines that can be used as a model system to further study functions of protein factors in genomic imprinting and extraembryonic development. Overall, this dissertation has provided new and important insights into roles of protein factors in regulation of imprinted gene expression.

Subjects/Keywords: Genomic Imprinting; Imprinted gene; MBD3; MTA2; CTCF; Cohesin; Biology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Lin, S. (2011). Roles of Protein Factors in Regulation of Imprinted Gene Expression. (Thesis). University of Pennsylvania. Retrieved from https://repository.upenn.edu/edissertations/1546

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Lin, Shu. “Roles of Protein Factors in Regulation of Imprinted Gene Expression.” 2011. Thesis, University of Pennsylvania. Accessed January 20, 2021. https://repository.upenn.edu/edissertations/1546.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Lin, Shu. “Roles of Protein Factors in Regulation of Imprinted Gene Expression.” 2011. Web. 20 Jan 2021.

Vancouver:

Lin S. Roles of Protein Factors in Regulation of Imprinted Gene Expression. [Internet] [Thesis]. University of Pennsylvania; 2011. [cited 2021 Jan 20]. Available from: https://repository.upenn.edu/edissertations/1546.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Lin S. Roles of Protein Factors in Regulation of Imprinted Gene Expression. [Thesis]. University of Pennsylvania; 2011. Available from: https://repository.upenn.edu/edissertations/1546

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Missouri – Columbia

20. Robbins, Katherine Marie. Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies.

Degree: 2011, University of Missouri – Columbia

URL: http://hdl.handle.net/10355/14379

► Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric overgrowth syndrome. BWS is speculated to occur primarily as the result of the misregulation of imprinted genes associated… (more)

Subjects/Keywords: Beckwith-Wiedemann syndrome; epigenetics; genomic imprinting; methylation; large offspring syndrome

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Robbins, K. M. (2011). Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies. (Thesis). University of Missouri – Columbia. Retrieved from http://hdl.handle.net/10355/14379

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Robbins, Katherine Marie. “Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies.” 2011. Thesis, University of Missouri – Columbia. Accessed January 20, 2021. http://hdl.handle.net/10355/14379.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Robbins, Katherine Marie. “Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies.” 2011. Web. 20 Jan 2021.

Vancouver:

Robbins KM. Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies. [Internet] [Thesis]. University of Missouri – Columbia; 2011. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10355/14379.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Robbins KM. Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies. [Thesis]. University of Missouri – Columbia; 2011. Available from: http://hdl.handle.net/10355/14379

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Missouri – Columbia

21. Wu, Ho-Hsiang, 1984-. Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data.

Degree: 2016, University of Missouri – Columbia

URL: https://doi.org/10.32469/10355/56998

► A crucial problem in building a generalized linear model (GLM) or a generalized linear mixed model (GLMM) is to identify which subset of predictors should… (more)

Subjects/Keywords: Linear models (Statistics); Bayesian statistical decision theory; Genomic imprinting

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APA (6^th Edition):

Wu, Ho-Hsiang, 1. (2016). Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data. (Thesis). University of Missouri – Columbia. Retrieved from https://doi.org/10.32469/10355/56998

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Wu, Ho-Hsiang, 1984-. “Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data.” 2016. Thesis, University of Missouri – Columbia. Accessed January 20, 2021. https://doi.org/10.32469/10355/56998.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Wu, Ho-Hsiang, 1984-. “Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data.” 2016. Web. 20 Jan 2021.

Vancouver:

Wu, Ho-Hsiang 1. Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data. [Internet] [Thesis]. University of Missouri – Columbia; 2016. [cited 2021 Jan 20]. Available from: https://doi.org/10.32469/10355/56998.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Wu, Ho-Hsiang 1. Nonlocal priors for Bayesian variable selection in generalized linear models and generalized linear mixed models and their applications in biology data. [Thesis]. University of Missouri – Columbia; 2016. Available from: https://doi.org/10.32469/10355/56998

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Melbourne

22. Stringer, Jessica Miriam. Genomic imprinting in the post-natal marsupial.

Degree: 2012, University of Melbourne

URL: http://hdl.handle.net/11343/37723

► Genomic imprinting regulates several genes that control nutrition and growth of the developing mammalian fetus. In marsupials, the placental attachment is short lived and most… (more)

▼ Genomic imprinting regulates several genes that control nutrition and growth of the developing mammalian fetus. In marsupials, the placental attachment is short lived and most growth and development of the young occurs post-natally. However, the role of imprinted genes in post-natal development, and in particular lactation, has received little attention in eutherians and none at all in marsupials. Therefore, this thesis focussed on three orthologous eutherian imprinted genes that are known to function in the mammary gland; insulin (INS), insulin-like growth factor 2 (IGF2) and growth-factor receptor binding protein 10 (GRB10). The expression, imprinting status and molecular regulation of these genes were examined in the mammary gland and in other adult and pouch young tissues of the marsupial, the tammar wallaby, Macropus eugenii. Direct sequencing confirmed that INS was tissue specifically imprinted and paternally epressed in the tammar liver and monoallelically expressed in the mammary gland. INS 5´RACE identified alternate transcription start sites (TSSs) located in the second to last exon of the tyrosine hydroxylase (TH) gene, which produced a novel TH-INS chimaera. Bisulphite sequencing showed that the INS TSS was highly methylated, but not differentially methylated, whereas the TH-INS TSS appeared to be a putative differentially methylated region (DMR) in both the mammary gland and liver. This is the first study to identify INS imprinting outside the yolk sac and suggests that genomic imprinting in the mother could regulate growth and development of the post-natal young. Tammar IGF2 5´RACE identified three promoters which were orthologous to eutherian promoters P1-P3. Expression of tammar IGF2 was similar to that seen in humans, but unlike humans, no DMRs were detected at any of the tammar IGF2 TSS. IGF2 had imprinted expression from all three promoters in the adult mammary gland while in the liver it switched from monoalleleic expression in the pouch young to biallelic in the adult. Interestingly, imprinting was restricted to the trilaminar layer of the yolk sac placenta. A putative placenta-specific DMR was identified in a region orthologous to the eutherian DMR2. The similarities between eutherian and marsupial IGF2 suggest that regulation and expression of this gene originated from three promoters, which have been selectively maintained for the last 160 million years. Tammar GRB10 was highly conserved with eutherian GRB10. However, unlike in eutherians, marsupials appear to have only one GRB10 promoter, othologous to the eutherian major-promoter. Tammar GRB10 was widely expressed in various tissues including the brain, but was not imprinted in any of the tissues examined. These results suggest that GRB10 imprinting evolved in the eutherian lineage after the eutherian-marsupial divergence, possibly subsequent to the acquisition of the brain-specific promoter. …

Subjects/Keywords: genomic imprinting; INS; IGF2; GRB10; marsupial; promoters; evolution; co-adaptation; methylation

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Stringer, J. M. (2012). Genomic imprinting in the post-natal marsupial. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/37723

Chicago Manual of Style (16^th Edition):

Stringer, Jessica Miriam. “Genomic imprinting in the post-natal marsupial.” 2012. Doctoral Dissertation, University of Melbourne. Accessed January 20, 2021. http://hdl.handle.net/11343/37723.

MLA Handbook (7^th Edition):

Stringer, Jessica Miriam. “Genomic imprinting in the post-natal marsupial.” 2012. Web. 20 Jan 2021.

Vancouver:

Stringer JM. Genomic imprinting in the post-natal marsupial. [Internet] [Doctoral dissertation]. University of Melbourne; 2012. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/11343/37723.

Council of Science Editors:

Stringer JM. Genomic imprinting in the post-natal marsupial. [Doctoral Dissertation]. University of Melbourne; 2012. Available from: http://hdl.handle.net/11343/37723

University of Edinburgh

23. Zhang, Tuo. Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells.

Degree: PhD, 2014, University of Edinburgh

URL: http://hdl.handle.net/1842/9967

► DNA methylation refers to an addition of a methyl group to the 5 position of the cytosine pyrimidine ring. As the best characterized epigenetic mark,… (more)

▼ DNA methylation refers to an addition of a methyl group to the 5 position of the cytosine pyrimidine ring. As the best characterized epigenetic mark, DNA methylation plays an important role in a plethora of biological functions, including gene repression, genomic imprinting, silencing of retro-transposons and X chromosome inactivation. Genomic imprinting refers to the mono-allelic expression of certain genes according to their parent-of-origin. In mammals, the expression of imprinted genes is controlled by the cis-acting regulatory elements, termed imprinted control regions (ICRs). ICRs are marked by parent-of-origin-specific DNA methylation and loss of DNA methylation at ICRs also causes aberrant expression of imprinted genes. Therefore it is believed that the genomic imprinting is a DNA methylation-associated epigenetic phenomenon. As accurate expression of imprinted genes is essential for normal embryonic growth, energy homeostasis, development of the brain and behaviour and abnormal expression of imprinted genes leads to numerous clinical phenotype and human disorders, it is important to investigate how the imprinted DNA methylation is stably maintained in mammals. DNA methyltransferases (DNMTs) are the main enzymes that play a in the establishment and maintenance of imprinted DNA methylation. In primordial germ cells (PGCs), DNMT3A and DNMT3L are involved in the establishment of imprinted DNA methylation. Whereas once established, the imprinted DNA methylation is maintained by DNMT1, DNMT3A and DNMT3B, but mainly by DNMT1. In addition, some other enzymes and DNA binding proteins also play a role in this process. One of the best examples is ZFP57, which forms a complex with KAP1 and SETDB1. ZFP57 maintains imprinted DNA methylation by recognizing a methylated hexa-nucleotide and recruits DNMTs to the ICRs in mammalian embryonic stem (ES) cells. Interestingly, DNA methylation analysis combined with promoter microarrays carried out in our lab suggested that imprinted DNA methylation is absent from some of the maternal ICRs in ES cells genetically null for G9a, a histone H3 lysine 9 methylase. This indicates that G9a might also play a role in the maintenance of imprinted DNA methylation. In my work, I found that the repressive H3K9me2 and imprinted DNA methylation are absent from several analysed ICRs in embryonic stem (ES) cells genetically null for either G9a or its partner histone methyltransferase GLP. A knockdown of G9a in ES cells reproduced these observations suggesting that G9a/GLP complex is required for the maintenance of imprinted DNA methylation. I also found that neither wild type nor catalytically inactive G9a can restore the loss of imprinted DNA methylation in G9a-/- ES cells. Chromatin immunoprecipitation (ChIP) combined with bisulfite DNA sequencing showed that imprinted DNA methylation was present on the H3K9me2-marked allele indicating a direct role for G9a in maintenance of genomic imprinting. Using a pharmacological inhibitor of G9a and mutagenesis analyses, I found that G9a maintains the…

Subjects/Keywords: 572.8; genomic imprinting; epigenetics; histone modifications; DNA methylation; embryonic stem cells

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Zhang, T. (2014). Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells. (Doctoral Dissertation). University of Edinburgh. Retrieved from http://hdl.handle.net/1842/9967

Chicago Manual of Style (16^th Edition):

Zhang, Tuo. “Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells.” 2014. Doctoral Dissertation, University of Edinburgh. Accessed January 20, 2021. http://hdl.handle.net/1842/9967.

MLA Handbook (7^th Edition):

Zhang, Tuo. “Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells.” 2014. Web. 20 Jan 2021.

Vancouver:

Zhang T. Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells. [Internet] [Doctoral dissertation]. University of Edinburgh; 2014. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1842/9967.

Council of Science Editors:

Zhang T. Maintenance of genomic imprinting by G9a/GLP complex of histone methyltransferases in embryonic stem (ES) cells. [Doctoral Dissertation]. University of Edinburgh; 2014. Available from: http://hdl.handle.net/1842/9967

Louisiana State University

24. Perera, Bambarendage Pinithi Upekka. Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3.

Degree: PhD, 2016, Louisiana State University

URL: etd-06172016-184834 ; https://digitalcommons.lsu.edu/gradschool_dissertations/3968

► Genomic imprinting is a mechanism that targets epigenetic modifications to regulate gene transcription to express a gene from only one of its two parental alleles.… (more)

▼ Genomic imprinting is a mechanism that targets epigenetic modifications to regulate gene transcription to express a gene from only one of its two parental alleles. Imprinted genes are typically clustered together and are involved in developmental regulation of the fetus. The paternally expressed gene 3 (Peg3) domain represents one such imprinted gene cluster involved in fetal growth regulation and maternal caring behavior. The transcription and imprinting control of the Peg3 domain requires the transcription factor Yin-Yang 1 (YY1), a protein that plays important roles throughout development. The first part of this work explores evidence for the hypothesis that half a dosage of YY1 may be involved in controlling the transcription and imprinting of Peg3 in vivo. The results reveal that Yy1 most likely functions as a transcriptional repressor in this domain. The results also provide new evidence for bi-allelic expression of Peg3 in the mouse brain. Altogether, this indicates that the maternal allele of Peg3 is expressed and functional in specific areas of the brain, including the choroid plexus, paraventricular nucleus (PVN), and the supraoptic nucleus (SON). The observed bi-allelic expression pattern indicates either de-repression of the maternal allele of the known promoter or the presence of alternative promoters for the Peg3 locus. Therefore, the second part of this work demonstrates that several alternative promoters exist for Peg3. The results reveal that these alternative promoters display allele-, tissue-, and developmental stage-specific expression patterns. This suggests that the activity of these alternative promoters have been functionally selected features for the Peg3 imprinted domain during mammalian evolution. The third part of this work develops a novel methodology that detects alternative promoters for Peg3 by incorporating both 5’ rapid amplification of cDNA ends (5’RACE) and next-generation sequencing (NGS) techniques. The results indicate that this NGS-based 5’RACE protocol is a sensitive and reliable method for detecting low-abundant transcripts and promoters. Overall, the research presented in this dissertation advances our understanding of how the YY1 transcription factor is involved in controlling the Peg3 imprinted domain and how alternative promoters may contribute to the allele-, tissue- and developmental stage-specific, Peg3 expression patterns observed in the mouse.

Subjects/Keywords: 5'RACE-NGS; Genomic imprinting; Peg3; Yy1; Transcription; Alternative promoters

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APA (6^th Edition):

Perera, B. P. U. (2016). Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3. (Doctoral Dissertation). Louisiana State University. Retrieved from etd-06172016-184834 ; https://digitalcommons.lsu.edu/gradschool_dissertations/3968

Chicago Manual of Style (16^th Edition):

Perera, Bambarendage Pinithi Upekka. “Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3.” 2016. Doctoral Dissertation, Louisiana State University. Accessed January 20, 2021. etd-06172016-184834 ; https://digitalcommons.lsu.edu/gradschool_dissertations/3968.

MLA Handbook (7^th Edition):

Perera, Bambarendage Pinithi Upekka. “Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3.” 2016. Web. 20 Jan 2021.

Vancouver:

Perera BPU. Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3. [Internet] [Doctoral dissertation]. Louisiana State University; 2016. [cited 2021 Jan 20]. Available from: etd-06172016-184834 ; https://digitalcommons.lsu.edu/gradschool_dissertations/3968.

Council of Science Editors:

Perera BPU. Yy1 Gene Dosage Effect and Allele-Specific Expression Analysis of Peg3. [Doctoral Dissertation]. Louisiana State University; 2016. Available from: etd-06172016-184834 ; https://digitalcommons.lsu.edu/gradschool_dissertations/3968

University of Pennsylvania

25. Abramowitz, Lara Kimberly. Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints.

Degree: 2013, University of Pennsylvania

URL: https://repository.upenn.edu/edissertations/727

► Genomic imprinting is an epigenetic phenomenon in which genes are monoallelicaly expressed according to their parent-of-origin. Imprinted expression entails marking parental chromosomes so that a… (more)

▼ Genomic imprinting is an epigenetic phenomenon in which genes are monoallelicaly expressed according to their parent-of-origin. Imprinted expression entails marking parental chromosomes so that a specific parental allele is stably repressed or expressed. Differential DNA methylation is essential for marking and regulating imprinted genes and is often found at imprinting control regions (ICRs). These DNA methylation imprints must be maintained throughout early development despite genome-wide epigenetic reprogramming to allow for stable allelic expression in differentiated tissues. Moreover, marking of the alleles must be erased in the germline so that establishment of sex-specific marks can occur during gametogenesis. These processes are critical for normal imprinting, however, the precise mechanisms and factors involved remain largely unknown. Of particular concern, environmental perturbations occurring during times of epigenetic reprogramming have been reported to disrupt imprinting. In this dissertation I investigate both cis and trans mechanisms by which DNA methylation confers imprints and how environmental stresses can disrupt imprinted regulation. I show that decreased CpG content at the endogenous paternal H19 ICR in mouse renders the ICR unable to silence paternal H19, indicating a cis-regulatory role for CpG density in imprinted regulation of H19. I also investigate the role that methyl-CpG-binding domain (MBD) proteins, involved in DNA methylation dependent repression, have in genomic imprinting. Through analysis of Mbd1 and Mbd2 mutant mice, I find that individual MBD proteins are dispensable for normal imprinting. In a collaborative effort to identify factors necessary for resetting of imprints in germ cells, we examine the cooperative function of Ten-eleven-translocation (TET)1 and TET2 in the erasure of imprints, and show that both TET1 and TET2 are required for demethylation at imprinted loci in the germline. Furthermore, as a collaborative effort, we investigate possible deregulation of imprints upon environmental stress through analysis of spermatogonial stem cells (SSCs) undergoing aging and cryopreservation. We find that stressed SSCs stably maintain methylation imprints and can produce sperm to be used in intracytoplasmic sperm injection that result in normal offspring. These results provide novel insights into mechanisms involved in normal imprint establishment and maintenance, as well as the stability of these marks despite environmental perturbations.

Subjects/Keywords: DNA methylation; Epigenetics; Genomic Imprinting; Reprogramming; Transcriptional Regulation; Genetics; Molecular Biology

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APA (6^th Edition):

Abramowitz, L. K. (2013). Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints. (Thesis). University of Pennsylvania. Retrieved from https://repository.upenn.edu/edissertations/727

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Abramowitz, Lara Kimberly. “Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints.” 2013. Thesis, University of Pennsylvania. Accessed January 20, 2021. https://repository.upenn.edu/edissertations/727.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Abramowitz, Lara Kimberly. “Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints.” 2013. Web. 20 Jan 2021.

Vancouver:

Abramowitz LK. Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints. [Internet] [Thesis]. University of Pennsylvania; 2013. [cited 2021 Jan 20]. Available from: https://repository.upenn.edu/edissertations/727.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Abramowitz LK. Genomic Imprinting: Establishment, Maintenance and Stability of DNA Methylation Imprints. [Thesis]. University of Pennsylvania; 2013. Available from: https://repository.upenn.edu/edissertations/727

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

26. Leite, Sarah Blima Paulino. Influência da idade gestacional no perfil epigenético placentário.

Degree: Mestrado, Genética, 2012, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-29102014-164207/ ;

► O imprinting genômico, processo regulado epigeneticamente segundo o qual os genes se expressam de acordo com sua origem parental, está envolvido no crescimento e desenvolvimento… (more)

▼ O imprinting genômico, processo regulado epigeneticamente segundo o qual os genes se expressam de acordo com sua origem parental, está envolvido no crescimento e desenvolvimento placentário. Na região 11p15.5 encontram-se vários genes regulados por duas regiões controladoras de imprinting (ICR1 e ICR2), onde se encontram as regiões diferencialmente metiladas H19DMR e KvDMR1. Acredita-se que o padrão de imprinting seja dinamicamente regulado durante o desenvolvimento da placenta. Em humanos, há poucas informações sobre imprinting genômico e desenvolvimento placentário, principalmente para estágios precoces do desenvolvimento devido às dificuldades técnicas de obtenção dessas placentas. A descrição de mosaicismo do padrão de metilação restrito a placenta ou entre a placenta e o feto evidencia um perfil epigenético único deste órgão. A 5-hidroximetilação, a qual não tem um papel de silenciamento gênico, pode ser confundida com a metilação do DNA nas análises moleculares. O objetivo principal do presente estudo foi o de verificar a influência da idade gestacional (IG) no perfil de metilação do DNA das ICRs 1 e 2 em vilosidade coriônica, bem como a existência de mosaicismo do perfil de metilação intra-placentário. Neste trabalho também foi investigada a presença de hidroximetilação na KvDMR1. Foram coletadas amostras de tecido placentário, sendo 25 de vilosidades coriônicas (VC) (15 de 3° trimestre gestacional e 10 do 1° trimestre) e nove de cordão umbilical (UC) de 1° trimestre (pareadas com a VC). Quatro placentas de 3° trimestre foram analisadas em separado para o estudo de mosaicismo. O perfil de metilação do DNA das regiões foi verificado por PCR Específica para a Metilação (MS-PCR), Análise Combinada de Bissulfito e Restrição Enzimática (COBRA) e Método de Digestão Enzimática Sensível à Metilação Associada à PCR em Tempo Real (DESM-RT), além do ensaio para hidroximetilação na KvDMR1. Com os ensaios qualitativos (MS-PCR e COBRA) foi observado um perfil de metilação monoalélico, sendo que na H19DMR foi identificada a presença de CpGs diferentemente metilados. Para a H19DMR foram observadas médias de 0,43 de metilação em VC e 0,31 em UC de 1° trimestre, e de 0,41 em VC de 3° trimestre. Para a KvDMR1, foram encontradas médias de 0,47 em VC e 0,57 em UC de 1° trimestre, e de 0,41 em VC de 3° trimestre. A presença de hidroximetilação na KvDMR1 foi excluída. Não foram observadas diferenças significativas entre as médias das diferentes IGs ou entre tecidos pelos testes t e F para ambas as regiões. Não foi observada correlação positiva no perfil de metilação para H19DMR e KvDMR1 entre os tecidos. Em relação ao mosaicismo, não houve diferenças significativas no perfil de metilação entre os diferentes cotilédones amostrados numa mesma placenta. Os resultados demonstram uma discordância entre tecido embrionário (UC) e extraembrionário (VC). Apesar de não serem observadas alterações significantes nos perfis de metilação da H19DMR e KvDMR1 em diferentes IGs, as informações apresentadas são importantes para as pesquisas sobre a… Advisors/Committee Members: Ramos, Ester Silveira.

Subjects/Keywords: Imprinting genômico; Genomic imprinting; Gestational age; H19DMR; H19DMR; Idade gestacional; KvDMR1; KvDMR1; Mosaicism; Mosaicismo; Placenta; Placenta

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Leite, S. B. P. (2012). Influência da idade gestacional no perfil epigenético placentário. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/17/17135/tde-29102014-164207/ ;

Chicago Manual of Style (16^th Edition):

Leite, Sarah Blima Paulino. “Influência da idade gestacional no perfil epigenético placentário.” 2012. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-29102014-164207/ ;.

MLA Handbook (7^th Edition):

Leite, Sarah Blima Paulino. “Influência da idade gestacional no perfil epigenético placentário.” 2012. Web. 20 Jan 2021.

Vancouver:

Leite SBP. Influência da idade gestacional no perfil epigenético placentário. [Internet] [Masters thesis]. University of São Paulo; 2012. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-29102014-164207/ ;.

Council of Science Editors:

Leite SBP. Influência da idade gestacional no perfil epigenético placentário. [Masters Thesis]. University of São Paulo; 2012. Available from: http://www.teses.usp.br/teses/disponiveis/17/17135/tde-29102014-164207/ ;

27. Bonaldi, Adriano. Estudo genético da síndrome de Silver-Russell.

Degree: Mestrado, Biologia (Genética), 2011, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-30092011-094226/ ;

► A síndrome de Silver-Russell (SRS) é caracterizada principalmente por grave retardo de crescimento intrauterino e pós-natal e face típica, pequena e triangular, entre outras características… (more)

▼ A síndrome de Silver-Russell (SRS) é caracterizada principalmente por grave retardo de crescimento intrauterino e pós-natal e face típica, pequena e triangular, entre outras características variáveis. A SRS é geneticamente heterogênea, ocorrendo em geral de forma esporádica. Mutações genéticas e epigenéticas em regiões sujeitas a imprinting genômico nos cromossomos 7 e 11 são detectadas em cerca de 50% dos pacientes. Mais frequentemente, a SRS é causada pela alteração da expressão gênica na região 11p15 devido à hipometilação do centro de imprinting telomérico (ICR1) que ocorre em pelo menos 40% dos afetados. Duplicações cromossômicas de origem materna incluindo o centro de imprinting centromérico (ICR2) estão presentes em 1-2% dos casos. A dissomia uniparental materna do cromossomo 7 (matUPD7) é responsável por 5-10% dos casos. Mais recentemente microdeleções e microduplicações cromossômicas foram detectadas em um grupo pequeno de pacientes, algumas delas se mostrando com possível efeito patogênico. Com a identificação da hipometilação de ICR1 em 11p15, matUPD(7) e desequilíbrios (sub)microscópicos, a confirmação molecular para o diagnóstico clínico da SRS tornou-se possível em ~50% dos pacientes, o que deixa metade dos casos sem causa genética determinada. A amostra foi constituída por 64 pacientes brasileiros não aparentados, com suspeita clínica da síndrome de Silver-Russell. O número de cópias de DNA e o padrão de metilação do cromossomo 11p15 foram investigados em 49 pacientes utilizando MS-MLPA, e 21 (43%) deles apresentaram hipometilação de ICR1. Em um desses pacientes (2%), ambos os centros, ICR1 e ICR2, estavam hipometilados, alteração complexa que já foi relatada em ~4% dos pacientes com SRS que apresentavam hipometilação de ICR1. Em outro paciente (2%), foi detectada uma microduplicação de origem materna que incluía o domínio ICR2, mas não ICR1. Essa microduplicação segrega em três gerações de uma família e a manifestação da síndrome depende da transmissão via materna: houve quatro casos de transmissões paternas da microduplicação de um único homem uniformemente resultando em prole normal, e cinco transmissões maternas, de duas irmãs clinicamente normais, com todas as crianças apresentando SRS. Outra microduplicação de origem materna restrita ao domínio ICR2 e associada com SRS em um menino foi descrita anteriormente. Entre os genes duplicados nos dois casos, CDKN1C aparece como candidato para o fenótipo da SRS, uma vez que codifica para um inibidor de quinase dependente de ciclina que regula negativamente o crescimento celular e tem papel crucial no desenvolvimento fetal humano. Esse novo caso familial vem confirmar que a duplicação restrita ao domínio ICR2, de herança materna, está causalmente associada com a SRS; mostra também que nenhuma alteração fenotípica aparente está presente, quando a duplicação é herdada via paterna. Entre os 64 pacientes da amostra, três (4,7%) foram identificados apresentando matUPD(7), pela genotipagem de microssatélites do cromossomo 7. As frequências de hipometilação de… Advisors/Committee Members: Morgante, Angela Maria Vianna.

Subjects/Keywords: Genomic imprinting; Imprinting genômico; Microrearranjos cromossômicos; Silver-Russell syndrome; Síndrome de Silver-Russell; Submicroscopic chromossomal imbalances

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Bonaldi, A. (2011). Estudo genético da síndrome de Silver-Russell. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/41/41131/tde-30092011-094226/ ;

Chicago Manual of Style (16^th Edition):

Bonaldi, Adriano. “Estudo genético da síndrome de Silver-Russell.” 2011. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-30092011-094226/ ;.

MLA Handbook (7^th Edition):

Bonaldi, Adriano. “Estudo genético da síndrome de Silver-Russell.” 2011. Web. 20 Jan 2021.

Vancouver:

Bonaldi A. Estudo genético da síndrome de Silver-Russell. [Internet] [Masters thesis]. University of São Paulo; 2011. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-30092011-094226/ ;.

Council of Science Editors:

Bonaldi A. Estudo genético da síndrome de Silver-Russell. [Masters Thesis]. University of São Paulo; 2011. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-30092011-094226/ ;

28. Araujo, Francielle Marques. Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais.

Degree: Mestrado, Ginecologia e Obstetrícia, 2007, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/17/17145/tde-08102008-124957/ ;

► ARAUJO, F. M. Ocorrência Familial e Associação de Polimorfismos dos Genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais. 2007. 118f. Disertação (Mestrado) Faculdade de… (more)

▼ ARAUJO, F. M. Ocorrência Familial e Associação de Polimorfismos dos Genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais. 2007. 118f. Disertação (Mestrado) Faculdade de Medicina, Universidade de São Paulo, Ribeirão Preto, 2007. As síndromes hipertensivas gestacionais [Pré-eclâmpsia/eclâmpsia (PE/E), hipertensão gestacional (HG) e hipertensão arterial crônica (HAC)] estão entre as maiores causas de morte materna e fetal. A PE é a mais prevalente dessas síndromes e o papel dos fatores genéticos na sua etiologia é bem aceito, embora o padrão de herança seja ainda assunto para debate. Os genes H19 e IGF2 sofrem imprinting (marcação) genômico e estão envolvidos na formação placentária e no desenvolvimento fetal. O objetivo do presente trabalho foi a pesquisa de ocorrência familial e da associação com os polimorfismos H19/RsaI e do IGF2/ApaI das síndromes hipertensivas gestacionais e do peso do recém-nascido. Todas as pacientes do estudo foram atendidas no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo e o projeto foi aprovado pelo Comitê de Ética deste hospital e pela Comissão Nacional de Ética em Pesquisa. Para a condução do estudo familial foram selecionadas 226 mulheres (75 apresentavam PE, 49 com HG e 102 do grupo controle). Os dados foram analisados pelos Testes Exato de Fisher e do Qui-quadrado, resultando em uma maior freqüência estatisticamente significativa (p <0,05) de parentes de primeiro-grau com PE/E entre o grupo de PE/E comparado aos outros grupos. Não foi observada influência da cor da pele na distribuição entre os grupos de pacientes. Para a pesquisa de polimorfismos de comprimento de fragmento de restrição H19/RsaI (alelos A e B) e IGF2/ApaI (alelos A e G) através da reação em cadeia da polimerase , foi extraído DNA de sangue periférico de 236 pacientes (55 apresentavam PE, 40 com HG, 34 com HAC e 107 do grupo controle). Os resultados, analisados através dos Testes do Qui-quadrado e G, não mostraram associação estatisticamente significativa entre os polimorfismos e as síndromes hipertensivas gestacionais ou HAC. Houve uma maior freqüência do alelo G na população estudada. Foi observado que em torno de 80% das pacientes dos quatro grupos estudados apresentou pelo menos uma cópia do alelo B e uma do alelo G, concomitantemente. A associação do peso do recém-nascido com os polimorfismos foi analisada utilizando-se os Testes Kolmogorov-Smirnov (a P<0,05) e os Não-paramétricos de Kruskal-Wallis (a P<0,05), não tendo sido evidenciadas diferenças estatisticamente significativas. No grupo da PE houve uma diminuição estatisticamente significativa do peso dos recém-nascidos quando não havia correção para a idade gestacional. Embora não tenha sido evidenciada correlação entre os polimorfismos e os fenótipos estudados, trabalhos futuros com um número amostral maior serão importantes para auxiliar no entendimento do envolvimento de fatores epigenéticos nas síndromes hipertensivas gestacionais e fornecer indícios para a prevenção, o tratamento e o aconselhamento… Advisors/Committee Members: Ramos, Ester Silveira.

Subjects/Keywords: Familial; Familial; Gene H19; Gene IGF2; genomic Imprinting; Gestational Hypertensive Disorders.; H19 gene; IGF2 gene; Imprinting genômico; Síndromes hipertensivas gestacionais

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Araujo, F. M. (2007). Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/17/17145/tde-08102008-124957/ ;

Chicago Manual of Style (16^th Edition):

Araujo, Francielle Marques. “Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais.” 2007. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/17/17145/tde-08102008-124957/ ;.

MLA Handbook (7^th Edition):

Araujo, Francielle Marques. “Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais.” 2007. Web. 20 Jan 2021.

Vancouver:

Araujo FM. Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais. [Internet] [Masters thesis]. University of São Paulo; 2007. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/17/17145/tde-08102008-124957/ ;.

Council of Science Editors:

Araujo FM. Ocorrência familial e associação de polimorfismos dos genes H19 e IGF2 com as Síndromes Hipertensivas Gestacionais. [Masters Thesis]. University of São Paulo; 2007. Available from: http://www.teses.usp.br/teses/disponiveis/17/17145/tde-08102008-124957/ ;

Louisiana State University

29. Bretz, Corey Lane. Epigenetic Response of Imprinted Domains during Carcinogenesis.

Degree: PhD, Life Sciences, 2017, Louisiana State University

URL: etd-06262017-161210 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4373

► The first part of this work induced T-cell lymphoma in mice by employing a breeding scheme involving mouse strains expressing the KrasG12D oncoprotein and mice… (more)

▼ The first part of this work induced T-cell lymphoma in mice by employing a breeding scheme involving mouse strains expressing the KrasG12D oncoprotein and mice expressing cyclic recombinase from the mouse mammary tumor virus promoter. Imprinted domains were then systematically surveyed for DNA methylation changes during tumor progression using combined bisulfite restriction analysis and next-generation-bisulfite-sequencing. Hyper-or hypomethylation was detected at the imprinting control regions (ICRs) of the Dlk1, Peg10, Peg3, Grb10 and Gnas domains. These DNA methylation changes at ICRs were more prevalent and consistent than those observed at the promoter regions of well-known tumor suppressors, such as Mgmt, Fhit and Mlh1. Thus, the changes observed at these imprinted domains are the outcome of isolated incidents affecting DNA methylation settings. Within imprinted domains, DNA methylation changes tend to be restricted to ICRs as nearby somatic differentially methylated regions and promoter regions experience no change. Furthermore, detailed analyses revealed that small cis-regulatory elements within ICRs tend to be resistant to DNA methylation changes, suggesting potential protection by unknown trans-factors. The second part of this work further characterized the epigenetic response of imprinted domains during carcinogenesis. This study compared the stability of DNA methylation at a variety if cis-regulatory elements within imprinted domains in two fundamentally different mouse tumors, benign and malignant. The data suggest that imprinted domains remain quite stable in benign processes, but are highly susceptible to epigenetic alterations in infiltrative lesions. The preservation of DNA methylation within imprinted domains in benign tumors throughout their duration suggests that imprinted genes are not involved with the initiation of carcinogenesis or the growth of tumors. However, the frequent detection of DNA methylation changes at imprinting control regions in infiltrative lesions suggest that imprinted genes are associated with tumor cells that have gained the ability to defy tissue boundaries. Overall, this study demonstrates that imprinted domains are targeted for DNA hypermethylation when benign tumor cells transition to malignant. Thus, monitoring DNA methylation within imprinted domains may be useful in evaluating the progression of neoplasms.

Subjects/Keywords: squamous papilloma; carcinogenesis; cancer; imprinted genes; imprinting control regions; genomic imprinting; DNA methylation; Epigenetic; T-cell lymphoma

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Bretz, C. L. (2017). Epigenetic Response of Imprinted Domains during Carcinogenesis. (Doctoral Dissertation). Louisiana State University. Retrieved from etd-06262017-161210 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4373

Chicago Manual of Style (16^th Edition):

Bretz, Corey Lane. “Epigenetic Response of Imprinted Domains during Carcinogenesis.” 2017. Doctoral Dissertation, Louisiana State University. Accessed January 20, 2021. etd-06262017-161210 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4373.

MLA Handbook (7^th Edition):

Bretz, Corey Lane. “Epigenetic Response of Imprinted Domains during Carcinogenesis.” 2017. Web. 20 Jan 2021.

Vancouver:

Bretz CL. Epigenetic Response of Imprinted Domains during Carcinogenesis. [Internet] [Doctoral dissertation]. Louisiana State University; 2017. [cited 2021 Jan 20]. Available from: etd-06262017-161210 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4373.

Council of Science Editors:

Bretz CL. Epigenetic Response of Imprinted Domains during Carcinogenesis. [Doctoral Dissertation]. Louisiana State University; 2017. Available from: etd-06262017-161210 ; https://digitalcommons.lsu.edu/gradschool_dissertations/4373

University of Toronto

30. Law, Rosalind. Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene.

Degree: 2014, University of Toronto

URL: http://hdl.handle.net/1807/74600

Individuals with ID and autism were identified carrying copy number variations within the autosomal recessive intellectual disability gene

M.Sc.

2016-11-18 00:00:00

Advisors/Committee Members: Vincent, John B, Medical Science.

Subjects/Keywords: Autism Spectrum Disorders; Copy Number Variations; Epigenetics; Genomic Imprinting; Intellectual disability; Methylation; 0369

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Law, R. (2014). Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/74600

Chicago Manual of Style (16^th Edition):

Law, Rosalind. “Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene.” 2014. Masters Thesis, University of Toronto. Accessed January 20, 2021. http://hdl.handle.net/1807/74600.

MLA Handbook (7^th Edition):

Law, Rosalind. “Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene.” 2014. Web. 20 Jan 2021.

Vancouver:

Law R. Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene. [Internet] [Masters thesis]. University of Toronto; 2014. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1807/74600.

Council of Science Editors:

Law R. Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene. [Masters Thesis]. University of Toronto; 2014. Available from: http://hdl.handle.net/1807/74600

Open Access Theses and Dissertations