Browsing Genetics by Title
Now showing items 32-51 of 146
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THE EFFECTS OF ANEUPLOIDY ON CELLULAR FITNESS AND AGING
Aneuploidy plays an important role in myriad biological processes. In the case of multicellular organisms, germline and somatic aneuploidy, respectively, have been associated with atypical development and diseases such ... -
Efficiently searching for enhancers and their target genes in the human genome
A single 3 billion letter genome contains the instructions for the 37 trillion diverse cells that make up one human. To accomplish this, the ~21,000 human genes are expressed and perform function in highly specific ... -
Enabling Community-Driven Proteomics
As the field of proteomics matures, it faces several computational challenges. This dis- sertation describes three new computational methods to address some of these challenges: Metapeptides, Param-Medic and GLEAMS. ... -
Epigenetic Regulation of Pluripotent and Multipotent Stem Cell Systems
The epigenome defines what a cell has the potential to do and allows a cell to elicit a response to external cues. This is exemplified in organisms where all the hundreds of different cell types share one genome but differ ... -
Establishment of a Drosophila model of intestinal sterol absorption and trafficking
(2007)Despite diet being a major source of cholesterol in Western culture, the absorption and downstream trafficking of cholesterol remain poorly understood processes. In humans, proteins of the NPC1 family are essential for ... -
Evolution and diversity of hominid genomes
(2014-02-24)Copy number variants (CNVs) contribute to a substantial amount of diversity both between and among hominid species. In this thesis I set out to catalog this variation across the hominid lineage and assess its impact on the ... -
The evolution and function of regulatory regions in yeast
Gene regulatory changes have long been theorized to be a source of evolutionary novelty. In more recent years, we have learned that noncoding changes can have a large effect on phenotype and disease and can be of evolutionary ... -
Evolutionary analysis of viral sequences in eukaryotic genomes
The focus of this work is several evolutionary analyses of endogenous viral sequences in eukaryotic genomes. Endogenous viral sequences can provide key insights into the past forms and evolutionary history of viruses, as ... -
Evolutionary and spatial dynamics underlying intra-tumor heterogeneity
Intra-tumor heterogeneity (ITH) is a pervasive feature of solid tumors that complicates clinical prognosis and management. Yet, the evolutionary processes that explain ITH remain largely unresolved. Here, we demonstrate ... -
Evolutionary Consequences of Metabolic Competition and Cooperation in Microbial Communities
Microbial communities are ubiquitous and perform functions fundamental to life on earth. The high density of organisms within them and the many ways in which these species interact with each other result in limitless ... -
Evolutionary dynamics of influenza virus across spatiotemporal scales
RNA viruses like influenza mutate rapidly to form genetically diverse populations. Recent high-throughput deep sequencing techniques make it possible to track influenza’s evolutionary dynamics at high resolution, showing ... -
Expanding cancer therapy options through genome-scale identification of synthetic lethal paralogs
Synthetic lethal therapies have the potential to expand cancer treatment options. Synthetic lethality is a form of context-dependent gene essentiality in which dual inactivation of a gene pair leads to cell death but ... -
Expanding the accuracy, resolution, and breadth of cell-free DNA investigation
When cells die, they don’t simply vanish without a trace. Instead, they leave behind fingerprints of their genetic and epigenetic identities in the form of cell-free DNA (cfDNA), or the scant amount of highly fragmented ... -
Expanding the scope and utility of single-cell genomic technologies
Technological advancements in single-cell genomic technologies have led to an exponential increase in number of cells from which biologists are able to measure various molecular profiles. This dramatic increase in scalability ... -
Exploring the roles of neurons that express melanin-concentrating hormone (MCH)
(2013-07-25)MCH-expressing neurons have been ascribed many roles based on studies of MCH-deficient mice. However, MCH neurons express other neurotransmitters, including GABA, nesfatin and cocaine-amphetamine-regulated transcript (CART). ... -
Feature Detection for the Hidden Proteome
Proteomics primarily focuses on identifying and quantifying peptides using database searches. However, there are instances where certain features of interest, such as unexpected byproducts, abnormal cleavages, unknown ... -
Formation of Chimeric Genes by Copy Number Variation as a Mutational Mechanism in Schizophrenia
(2013-07-25)Chimeric genes are caused by structural genomic rearrangements that fuse together portions of two different genes to create a novel gene. Chimeras may differ from their parent genes in localization, regulation, or function. ... -
Genetic analysis of rhythmic behavior in C. elegans
(2005)How do genetic networks control the behavior of an organism? To approach this problem, I chose the model organism C. elegans, a simple metazoan that displays several easily observed behavioral programs such as locomotion, ... -
Genetic and biochemical analysis of the Drosophila melanogaster homolog of the human SCA2 gene
(2005)The polyglutamine repeat diseases are a group of dominantly inherited neurodegenerative disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving ... -
Genetic etiologies of Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a common, heritable neurodevelopmental disorder. In this thesis, I examine how different genetic etiologies, mutation types and specific genes contribute to the risk of ASD, and how these ...