<p> Human development and health involves the complex and coordinated regulation of gene expression across diverse tissues. Gene regulation is therefore an essential process in human biology. In the field of human genetics, this has only become more apparent as genomic technologies have made genome-wide surveys of genetic variation underlying human traits possible. In my thesis work, I studied the impact of variation in gene regulation on human traits from three distinct perspectives of human genetics. I first examined the contribution of gene regulation to human disease susceptibility by combining gene expression data with a genome-wide association study to identify novel asthma susceptibility candidate genes. I then studied the effects of depleting specific transcription factors from the cell on downstream gene expression by incorporating gene expression data (following cellular depletion of those factors) with genomic transcription factor binding data. Finally, I considered the role of gene regulation in human evolution by integrating RNA-seq data collected in human, chimpanzee, and rhesus macaque lymphoblastoid cell lines with promoter reporter assays conducted in the same lines. Throughout this work, I have synthesized multiple genomic data sets and multiple distinct sub-disciplines of human genetics in order to arrive at a unified view of the role of gene regulation in determining human traits.</p>
| Identifer | oai:union.ndltd.org:PROQUEST/oai:pqdtoai.proquest.com:3606309 |
| Date | 11 February 2014 |
| Creators | Cusanovich, Darren Anthony |
| Publisher | The University of Chicago |
| Source Sets | ProQuest.com |
| Language | English |
| Detected Language | English |
| Type | thesis |
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