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Genetic and Functional Studies of Non-Coding Variants in Human Disease
(2013-03-08)
Genome-wide association studies (GWAS) of common diseases have identified hundreds of genomic regions harboring disease-associated variants. Translating these findings into an improved understanding of human disease requires ...
The Cell Cycle and Differentiation in Stem Cells
(2013-03-08)
The relationship between cellular proliferation and differentiation is a major topic in cell biology. What we know comes from models of somatic cell differentiation, where it is widely viewed that cycling and differentiation ...
Indirect Evolution of Hybrid Lethality due to Linkage with Selected Locus in Mimulus guttatus
(Public Library of Science, 2013)
Most species are superbly and intricately adapted to the environments in which they live. Adaptive evolution by natural selection is the primary force shaping biological diversity. Differences between closely related species ...
Evolution after Introduction of a Novel Metabolic Pathway Consistently Leads to Restoration of Wild-Type Physiology
(Public Library of Science, 2013)
Organisms cope with physiological stressors through acclimatizing mechanisms in the short-term and adaptive mechanisms over evolutionary timescales. During adaptation to an environmental or genetic perturbation, beneficial ...
Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway
(Public Library of Science, 2013)
Although genetic and non-genetic studies in mouse and human implicate the CD40 pathway in rheumatoid arthritis (RA), there are no approved drugs that inhibit CD40 signaling for clinical care in RA or any other disease. ...
Genomic Variation and Its Impact on Gene Expression in Drosophila Melanogaster
(Public Library of Science, 2012)
Understanding the relationship between genetic and phenotypic variation is one of the great outstanding challenges in biology. To meet this challenge, comprehensive genomic variation maps of human as well as of model ...
Genetic Characterization of smg-8 Mutants Reveals No Role in C. elegans Nonsense Mediated Decay
(Public Library of Science, 2012)
The nonsense mediated decay (NMD) pathway degrades mRNAs bearing premature translation termination codons. In mammals, SMG-8 has been implicated in the NMD pathway, in part by its association with SMG-1 kinase. Here we use ...
Monoaminergic Orchestration of Motor Programs in a Complex C. elegans Behavior
(Public Library of Science, 2013)
Monoamines provide chemical codes of behavioral states. However, the neural mechanisms of monoaminergic orchestration of behavior are poorly understood. Touch elicits an escape response in Caenorhabditis elegans where the ...
The Methanol Dehydrogenase Gene, mxaF, as a Functional and Phylogenetic Marker for Proteobacterial Methanotrophs in Natural Environments
(Public Library of Science, 2013)
The mxaF gene, coding for the large \((\alpha)\) subunit of methanol dehydrogenase, is highly conserved among distantly related methylotrophic species in the Alpha-, Beta- and Gammaproteobacteria. It is ubiquitous in ...
Toward Multiplex Genome Engineering in Mammalian Cells
(2013-10-18)
Given the explosion in human genetic data, new high-throughput genetic methods are necessary for studying variants and elucidating their role in human disease. In Chapter I, I will expand on this concept and describe ...