A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
Open Access
- 17 June 2013
- journal article
- research article
- Published by Springer Science and Business Media LLC in Scientific Reports
- Vol. 3 (1), 2000
- https://doi.org/10.1038/srep02000
Abstract
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case – control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair and Persian, to localize the Selkirk autosomal dominant rexoid locus (SADRE). Although the control cats were from different breed lineages, they share recent breeding histories and were validated as controls by Bayesian clustering, multi-dimensional scaling and genomic inflation. A significant association was found on cat chromosome B4 (Praw = 2.87 × 10−11), and a unique haplotype spanning ~600 Kb was found in all the curly coated cats. Direct sequencing of four candidate genes revealed a splice site variant within the KRT71 gene associated with the hair abnormality in Selkirk Rex.This publication has 73 references indexed in Scilit:
- A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hairScientific Reports, 2012
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71Mammalian Genome, 2010
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplexNature, 2010
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair TextureAmerican Journal of Human Genetics, 2010
- Coat Variation in the Domestic Dog Is Governed by Variants in Three GenesScience, 2009
- Fast model-based estimation of ancestry in unrelated individualsGenome Research, 2009
- The human keratins: biology and pathologyHistochemistry and Cell Biology, 2008
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- The secret life of the hair follicleTrends in Genetics, 1992