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You searched for +publisher:"University of Tennessee Health Science Center" +contributor:("Robert W. Williams, Ph.D."). Showing records 1 – 2 of 2 total matches.

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1. Pandey, Ashutosh Kumar. Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes.

Degree: PhD, Biomedical Sciences, 2015, University of Tennessee Health Science Center

Reverse genetics methods, particularly the production of gene knockouts and knockins, have revolutionized the understanding of gene function. High throughput sequencing now makes it practical to exploit reverse genetics to simultaneously study functions of thousands of normal sequence variants and spontaneous mutations that segregate in intercross and backcross progeny generated by mating completely sequenced parental lines. To evaluate this new reverse genetic method we resequenced the genome of one of the oldest inbred strains of mice—DBA/2J—the father of the large family of BXD recombinant inbred strains. We analyzed ~100X wholegenome sequence data for the DBA/2J strain, relative to C57BL/6J, the reference strain for all mouse genomics and the mother of the BXD family. We generated the most detailed picture of molecular variation between the two mouse strains to date and identified 5.4 million sequence polymorphisms, including, 4.46 million single nucleotide polymorphisms (SNPs), 0.94 million intersections/deletions (indels), and 20,000 structural variants. We systematically scanned massive databases of molecular phenotypes and ~4,000 classical phenotypes to detect linked functional consequences of sequence variants. In majority of cases we successfully recovered known genotype-to-phenotype associations and in several cases we linked sequence variants to novel phenotypes (Ahr, Fh1, Entpd2, and Col6a5). However, our most striking and consistent finding is that apparently deleterious homozygous SNPs, indels, and structural variants have undetectable or very modest additive effects on phenotypes. Advisors/Committee Members: Robert W. Williams, Ph.D..

Subjects/Keywords: BXD; complex traits; DBA/2J; nextgeneration sequencing; PheWAS; reverse genetics; Genetic Phenomena; Genetic Processes; Medical Genetics; Medical Sciences; Medicine and Health Sciences

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APA (6th Edition):

Pandey, A. K. (2015). Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes. (Doctoral Dissertation). University of Tennessee Health Science Center. Retrieved from https://dc.uthsc.edu/dissertations/359

Chicago Manual of Style (16th Edition):

Pandey, Ashutosh Kumar. “Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes.” 2015. Doctoral Dissertation, University of Tennessee Health Science Center. Accessed April 16, 2021. https://dc.uthsc.edu/dissertations/359.

MLA Handbook (7th Edition):

Pandey, Ashutosh Kumar. “Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes.” 2015. Web. 16 Apr 2021.

Vancouver:

Pandey AK. Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes. [Internet] [Doctoral dissertation]. University of Tennessee Health Science Center; 2015. [cited 2021 Apr 16]. Available from: https://dc.uthsc.edu/dissertations/359.

Council of Science Editors:

Pandey AK. Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes. [Doctoral Dissertation]. University of Tennessee Health Science Center; 2015. Available from: https://dc.uthsc.edu/dissertations/359

2. Mozhui, Khyobeni. Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior.

Degree: PhD, Anatomy and Neurobiology, 2009, University of Tennessee Health Science Center

Genetic diversity generates variation at multiple phenotypic levels, ranging from the most basic molecular to higher-order cognitive and behavioral traits. The far-reaching impact that genes have on higher traits is apparent in several neuropsychiatric conditions such as stress and anxiety disorders. Like most, if not all, neural phenotypes, stress, anxiety, and other emotion-related traits are extremely complex and are defined by the interplay of multiple genetic, environmental, experiential, and epigenetic factors. The work presented in this dissertation is a multi-scalar, integrative analysis of the molecular and neuroanatomic substrates that underlie emotion-related behavior. The amygdala is a principle component of the limbic system that controls emotionality. Using BXD recombinant inbred (RI) mice as model organisms, the anatomy and cellular architecture of the amygdala—specifically, the basolateral amygdala (BLA)—was examined to assess the level of structural variation in this brain region. Quantitative trait locus (QTL) analysis was done to identify genetic loci that modulate the neuroanatomical traits of the BLA. The BXD RI mice were also tested using a variety of behavioral assays, and this showed a significant association between the BLA size and emotion-related behavior. The effect of chronic stress on subsequent behavior and endocrine-response was also examined in several genetically diverse inbred mice. Finally, to explore the molecular mediators of stress and anxiety, microarrays were used to assay gene expression in three key corticolimbic brain regions—the prefrontal cortex, amygdala, and hippocampus. Several large transcriptome data sets were also analyzed. These expression data sets brought focus on an interval on mouse distal chromosome 1 that modulates diverse neural and behavioral traits, and also controls the expression of a plethora of genes. This QTL rich region on mouse distal chromosome 1 (Qrr1) provides insights into how the information in the DNA sequence is conveyed by networks of co-regulated genes that may in turn modulate networks of inter-related phenotypes. Advisors/Committee Members: Robert W. Williams, Ph.D..

Subjects/Keywords: anxiety; complex traits; expression genetics; QTL; stress; Anatomy; Medical Sciences; Medicine and Health Sciences; Mental and Social Health; Nervous System; Neurosciences

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

APA (6th Edition):

Mozhui, K. (2009). Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior. (Doctoral Dissertation). University of Tennessee Health Science Center. Retrieved from https://dc.uthsc.edu/dissertations/180

Chicago Manual of Style (16th Edition):

Mozhui, Khyobeni. “Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior.” 2009. Doctoral Dissertation, University of Tennessee Health Science Center. Accessed April 16, 2021. https://dc.uthsc.edu/dissertations/180.

MLA Handbook (7th Edition):

Mozhui, Khyobeni. “Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior.” 2009. Web. 16 Apr 2021.

Vancouver:

Mozhui K. Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior. [Internet] [Doctoral dissertation]. University of Tennessee Health Science Center; 2009. [cited 2021 Apr 16]. Available from: https://dc.uthsc.edu/dissertations/180.

Council of Science Editors:

Mozhui K. Multiscale Genomic Analysis of the Corticolimbic System: Uncovering the Molecular and Anatomic Substrates of Anxiety-Related Behavior. [Doctoral Dissertation]. University of Tennessee Health Science Center; 2009. Available from: https://dc.uthsc.edu/dissertations/180

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