A5087340567- Genetic and phenotypic traits in livestock
- Human-Animal Interaction Studies
- Genetic Mapping and Diversity in Plants and Animals
- Animal Genetics and Reproduction
- Veterinary Equine Medical Research
- Chromosomal and Genetic Variations
- Wildlife Ecology and Conservation
- dental development and anomalies
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Genomics and Phylogenetic Studies
- Rabies epidemiology and control
- Molecular Biology Techniques and Applications
- Fibroblast Growth Factor Research
- Genetic diversity and population structure
- Muscle Physiology and Disorders
- Genetic Syndromes and Imprinting
- Growth Hormone and Insulin-like Growth Factors
- Advanced Statistical Methods and Models
- Morphological variations and asymmetry
- Folate and B Vitamins Research
- Wnt/β-catenin signaling in development and cancer
- Veterinary Oncology Research
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
La Sierra University
2015-2025
Cornell University
2007-2020
New York State College of Veterinary Medicine
2010
National Institutes of Health
2004-2008
National Human Genome Research Institute
2005-2008
University of California, Los Angeles
2007
University of Southern California
2007
University of Utah
2007
Fred Hutch Cancer Center
2003-2005
Hospital for Sick Children
2005
Double muscling is a trait previously described in several mammalian species including cattle and sheep caused by mutations the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe new mutation MSTN found whippet dog breed that results double-muscled phenotype known "bully" whippet. Individuals with this carry two copies of two-base-pair deletion third exon leading premature stop codon at amino acid 313. carrying only one copy are, on average, more muscular than wild-type...
We used molecular markers to study genetic relationships in a diverse collection of 85 domestic dog breeds. Differences among breeds accounted for ∼30% variation. Microsatellite genotypes were correctly assign 99% individual dogs Phylogenetic analysis separated several with ancient origins from the remaining modern European origins. identified four clusters, which predominantly contained similar geographic origin, morphology, or role human activities. These results provide classification and...
The domestic dog exhibits greater diversity in body size than any other terrestrial vertebrate. We used a strategy that exploits the breed structure of dogs to investigate genetic basis size. First, through genome-wide scan, we identified major quantitative trait locus (QTL) on chromosome 15 influencing variation within single breed. Second, examined 15-megabase interval surrounding QTL small and giant breeds found marked evidence for selective sweep spanning gene (IGF1), encoding...
Domestic dogs exhibit tremendous phenotypic diversity, including a greater variation in body size than any other terrestrial mammal. Here, we generate high density map of canine genetic by genotyping 915 from 80 domestic dog breeds, 83 wild canids, and 10 outbred African shelter across 60,968 single-nucleotide polymorphisms (SNPs). Coupling this genomic resource with external measurements breed standards individuals as well skeletal museum specimens, identify 51 regions the genome associated...
Going Retro In a year celebrating Darwin, the question of how new functional genes arise during evolution is particular interest. Through multibreed genetic analysis domestic dog, Parker et al. (p. 995 , published online 16 July; see Perspective by Kaessmann ) find that short-legged phenotype characterizes at least 19 common dog breeds, including corgi, dachshund, and basset hound, specifically associated with expression in developing bone gene encoding fibroblast growth factor 4 ( fgf4 ),...
Abstract The domestic dog is becoming an increasingly valuable model species in medical genetics, showing particular promise to advance our understanding of cancer and orthopaedic disease. Here we undertake the largest canine genome-wide association study date, with a panel over 4,200 dogs genotyped at 180,000 markers, accelerate mapping efforts. For complex diseases, identify loci significantly associated hip dysplasia, elbow idiopathic epilepsy, lymphoma, mast cell tumour granulomatous...
Significance Dogs were the first domesticated species, but precise timing and location of domestication are hotly debated. Using genomic data from 5,392 dogs, including a global set 549 village we find strong evidence that dogs in Central Asia, perhaps near present-day Nepal Mongolia. nearby regions (e.g., East India, Southwest Asia) contain high levels genetic diversity due to their proximity Asia large population sizes. Indigenous dog populations Neotropics South Pacific have been largely...
The 156 breeds of registered dogs in the United States offer a unique opportunity to map genes important disease susceptibility, morphology, and behavior. Linkage disequilibrium (LD) is current interest for its application whole genome association mapping, since extent LD determines feasibility such studies. We have measured at five genomic intervals, each 5 Mb length composed clusters sequence variants spaced 800 kb-1.6 apart. These intervals are located on canine chromosomes 1, 2, 3, 34,...
Horse body size varies greatly due to intense selection within each breed. American Miniatures are less than one meter tall at the withers while Shires and Percherons can exceed two meters. The genetic basis for this variation is not known. We hypothesize that breed population structure of horse should simplify efforts identify genes controlling size. In support this, here we show with genome-wide association scans (GWAS) just four loci explain great majority variation. Unlike humans, which...
Assessing the extent of linkage disequilibrium (LD) in natural populations a nonmodel species has been difficult due to lack available genomic markers. However, with advances genotyping and genome sequencing, characterization become feasible. Using sequence data SNP genotypes, we measured LD modeled demographic history wild canid domestic dog breeds. In 11 gray wolf one coyote population, find that as by distance at which r2=0.2 extends <10 kb outbred >1.7 Mb have experienced significant...
Epilepsy afflicts 1% of humans and 5% dogs. We report a canine epilepsy mutation evidence for the existence repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in Epm2b ( Nhlrc1 ) gene recurrently expands, causing fatal contributing to high incidence epilepsy. Tracing origins revealed two successive events, starting 50 million years ago, unique canid evolution. genetic test, presented here, will allow carrier presymptomatic diagnosis eradication....
Selective breeding of dogs by humans has generated extraordinary diversity in body size. A number multibreed analyses have been undertaken to identify the genetic basis this diversity. We analyzed four loci discovered a previous genome-wide association study that used 60,968 SNPs size-associated genomic intervals, which were too large assign causative roles genes. First, we performed fine-mapping define critical intervals included candidate genes GHR, HMGA2 , SMAD2 and STC2, identifying five...
Messenger RNA 3' untranslated regions (3'UTRs) control many aspects of gene expression and determine where the transcript will terminate. The polyadenylation signal (PAS) AAUAAA (AATAAA in DNA) is a key regulator termination this hexamer, or similar sequence, very frequently found within 30 bp 3'UTR ends. Short interspersed element (SINE) retrotransposons are throughout genomes high copy numbers. When inserted into genes they can disrupt expression, alter splicing, cause nuclear retention...
Summary Horses, like many domesticated species, have been selected for broad variation in skeletal size. This is not only an interesting model of rapid evolutionary change during domestication, but also directly applicable to the horse industry. Breeders select complex traits body size and conformation improve marketability, function, soundness performance show ring. Using a well‐defined set 35 measurements, we identified quantified species. We collected measurements from 1215 horses...
A selective sweep containing the insulin-like growth factor 1 (IGF1) gene is associated with size variation in domestic dogs. Intron 2 of IGF1 contains a SINE element and single nucleotide polymorphism (SNP) found all small dog breeds that almost entirely absent from large breeds. In this study, we surveyed sample grey wolf populations to better understand ancestral pattern at particular focus on distribution haplotype its relationship origin dog. We present DNA sequence data confirms...
Genomic resources for the domestic dog have improved with widespread adoption of a 173k SNP array platform and updated reference genome. arrays this density are sufficient detecting genetic associations within breeds but underpowered finding across multiple or in mixed-breed dogs, where linkage disequilibrium rapidly decays between markers, even though such studies would hold particular promise mapping complex diseases traits. Here we introduce an imputation panel, consisting 365 diverse,...
The domesticated horse has played a unique role in human history, serving not just as source of animal protein, but also catalyst for long-distance migration and military conquest. As result, the developed physiological adaptations to meet demands both their climatic environment relationship with man. Completed 2009, first reference genome assembly (EquCab 2.0) produced most publicly available genetic variations annotations this species. Yet, there are around 400 geographically...
Conformation has long been a driving force in horse selection and breed creation as predictor for performance. The Tennessee Walking Horse (TWH) ranges size from 1.5 to 1.7 m is often used trail, show, pleasure horse. To investigate the contribution of genetics body conformation TWH, we collected DNA samples, measurements, gait/training information 282 individuals. We analyzed 32 measures with principal component analysis. Principal (PC)1 captured 28.5% trait variance, while PC2 comprised...
The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding DNA damage checkpoint kinase ATM, is characterized multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM central to a pathway that responds double-strand breaks, whereas related ATR leads parallel signaling cascade activated replication stress. To dissect physiological relationship between pathways, we generated mice defective for...