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August 2014 - December 2019
September 2008 - May 2012
Publications
Publications (13)
Article Domestic dog lineages reveal genetic drivers of behavioral diversification Graphical abstract Highlights d High-dimensional data analysis reveals canine lineages, resolving breed relationships d Canine behavioral diversification predates modern breed formation d Ancient non-coding variation drives working role-related dog behaviors d Canine...
The evolution of uniquely human traits likely entailed changes in developmental gene regulation. Human Accelerated Regions (HARs), which include transcriptional enhancers harboring a significant excess of human-specific sequence changes, are leading candidates for driving gene regulatory modifications in human development. However, insight into whe...
Developmental gene expression patterns are orchestrated by thousands of distant-acting transcriptional enhancers. However, identifying enhancers essential for the expression of their target genes has proven challenging. Maps of long-range regulatory interactions may provide the means to identify enhancers critical for developmental gene expression....
Bestrophinopathies, one of the most common forms of inherited macular degenerations, are caused by mutations in the BEST1 gene expressed in the retinal pigment epithelium (RPE). Both human and canine BEST1-linked maculopathies are characterized by abnormal accumulation of autofluorescent material within RPE cells and bilateral macular or multifocal...
Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). ACHM is a congenital, autosomal recessive retinal disorder that manifests by cone photorece...
Free-breeding dogs have occupied the Galápagos Islands at least since the 1830s; however, it was not until the 1900s that dog populations grew substantially, endangering wildlife and spreading disease. In 1981, efforts to control the population size of free-roaming dogs began. Yet, there exist large free-roaming dog
populations on the islands of Is...
Background
Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide substitutions, transposition, and insertions and deletions in altering enhancer function. CpG islands (CGIs) have recently been shown to in...
Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide substitutions, transposition, and insertions and deletions in altering enhancer function. Here we show that turnover of CpG islands (CGIs), which cont...
The 1986 Chernobyl nuclear disaster initiated a series of catastrophic events resulting in long-term and widespread environmental contamination. We characterize the genetic structure of 302 dogs representing three free-roaming dog populations living within the power plant itself, as well as those 15 to 45 kilometers from the disaster site. Genome-w...
Selective breeding of domestic dogs has generated diverse breeds often optimized for performing specialized tasks. Despite the heritability of breed-typical behavioral traits, identification of causal loci has proven challenging due to the complexity of canine population structure. We overcome longstanding difficulties in identifying genetic driver...
Morphological innovations that arose during human evolution are ultimately encoded in genetic changes that altered development. Human Accelerated Regions (HARs), which include developmental enhancers that harbor a significant excess of human-specific sequence changes, are leading candidates for driving novel physical modifications in humans. Here w...
Gene expression patterns during development are orchestrated in part by thousands of distant-acting transcriptional enhancers. However, identifying enhancers that are essential for expression of their target genes has proven challenging. Genetic perturbation of individual enhancers in some cases results in profound molecular and developmental pheno...
Human bestrophinopathies, a group of inherited retinal disorders caused by mutations in BEST1, are one of the most common early-onset macular dystrophies still considered incurable. The disease is usually diagnosed in early childhood or adolescence, and primarily affects macular region leading to major declines in central vision later in life. Cani...