Browsing Genetics by Title
Now showing items 47-66 of 146
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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 ... -
Genetic profiling of drug resistance in Plasmodium falciparum
(2007)Malaria is an infectious febrile illness caused by four species of Plasmodium parasite, with Plasmodium falciparum responsible for the greatest number of fatalities. Unfortunately, drug resistant strains of P. falciparum ... -
Genetic, molecular, and cytological characterization of the paternal effect gene, paternal loss, of Drosophila melanogaster
(1996)Mutations in the paternal effect gene, paternal loss (pal) of Drosophila melanogaster cause loss of only the paternally inherited chromosomes during early embryogenesis. In an effort to better understand the role of the ... -
Genomic Insights into Inherited Bone Marrow Failure
Hematopoiesis is a tightly regulated hierarchical differentiation process where hematopoietic stem cells differentiate into lineage-specific progenitors and in time, mature blood cells. Hematopoiesis takes place in the ... -
Global measurements of human transcription factor occupancy: Insights into development and genome evolution
(2013-07-25)Transcription factors (TFs) are a class of proteins that interact with the genome, dictating which parts of the genome are utilized by a given cell. Despite the central role TFs play in regulating the genome, technologies ... -
High throughput determination of sequence-function relationships in protein and RNA
As more individuals have their genomes sequenced, more genetic variation is discovered. The problem of interpretation of this variation has become intractable using established methods of linking phenotype to genotype, ... -
High-throughput functional characterization of cancer specific alternative polyadenylation
RNA dysregulation is a ubiquitous feature of human cancers and misexpression of even a single RNA isoform is sufficient to drive cancer. Among types of RNA processing, alternative cleavage and polyadenylation (APA), a ... -
High-throughput interrogation of genome function and cellular lineage
Mutations can reveal how biological functions are encoded in our DNA, and how biological specimens relate to one another. In nature, mutations occur infrequently and are subject to natural selection. Therefore, to better ... -
High-throughput methods of studying human cytochrome P450 activity in Saccharomyces cerevisiae
Genetic variation in cytochrome P450 enzymes leads to inter-individual variability in drug metabolism, while lack of functional annotation prevents most variants from being used to inform drug choice and dosing. To measure ... -
High-throughput methods to analyze protein-DNA and protein-RNA interactions
The genome of a cell contains the information to make thousands of RNA and protein molecules. However, a cell typically expresses only a fraction of its genes, with different phenotypes arising because of differentially ... -
Human-specific duplicate genes: new frontiers for disease and evolution
Gene duplication is a fundamental force contributing to the evolution of novel traits, genomic diversity among species and individuals, and disease. In this dissertation, I characterize the evolutionary history, diversity, ... -
Identification and characterization of genes that modify tubulogenesis defects caused by over-expression of Imaginal Disc Growth Factor-3 using the Drosophila dorsal appendage model, a partial genomic expedition
Biological tube formation underlies organ development, and when disrupted, can cause severe birth defects. To investigate the genetic basis of tubulogenesis, I study the formation of Drosophila melanogaster eggshell ... -
Identification of candidate substrates of the leucine rich repeat kinase 2 by mass spectrometry-based phosphoproteomics
Mutations in the kinase domain of the leucine rich repeat kinase (LRRK2) have been implicated in heritable forms of Parkinson’s disease (PD). Specifically, a glycine to serine mutation (G2019S) has demonstrated hyperactive ... -
Identifying Neural Pathways of Stress and Fear with Retrograde Viral Tracing and Single Cell RNA Sequencing
The brain is made up of millions of neurons, often making thousands of connections each. Interrogating individual neurons activated by stressors is the equivalent of finding a needle in a haystack. Here we describe ... -
Identifying New Genes for Inherited Breast Cancer by Exome Sequencing
(2014-02-24)Breast cancer is the most common cancer among American women and family history is an important risk factor for its occurrence. More than 20 genes have been identified with inherited mutations that lead to significantly ... -
Immune consequences and therapeutic targeting of disrupted RNA splicing in cancer
Immunotherapies, such as checkpoint blockade, CAR-T cells, and vaccines, have proven to be a valuable tool to treat various types of cancer. This class of therapy capitalizes on the immune system’s natural ability to ...