title: To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.
abstract: The cat (Felis silvestris catus) shows significant variation in pelage, morphological, and behavioral phenotypes amongst its over 40 domesticated breeds. The majority of the breed specific phenotypic presentations originated through artificial selection, especially on desired novel phenotypic characteristics that arose only a few hundred years ago. Variations in coat texture and color of hair often delineate breeds amongst domestic animals. Although the genetic basis of several feline coat colors and hair lengths are characterized, less is known about the genes influencing variation in coat growth and texture, especially rexoid - curly coated types. Cornish Rex is a cat breed defined by a fixed recessive curly coat trait. Genome-wide analyses for selection (di, Tajima's D and nucleotide diversity) were performed in the Cornish Rex breed and in 11 phenotypically diverse breeds and two random bred populations. Approximately 63K SNPs were used in the analysis that aimed to localize the locus controlling the rexoid hair texture. A region with a strong signature of recent selective sweep was identified in the Cornish Rex breed on chromosome A1, as well as a consensus block of homozygosity that spans approximately 3 Mb. Inspection of the region for candidate genes led to the identification of the lysophosphatidic acid receptor 6 (LPAR6). A 4 bp deletion in exon 5, c.250_253_delTTTG, which induces a premature stop codon in the receptor, was identified via Sanger sequencing. The mutation is fixed in Cornish Rex, absent in all straight haired cats analyzed, and is also segregating in the German Rex breed. LPAR6 encodes a G protein-coupled receptor essential for maintaining the structural integrity of the hair shaft; and has mutations resulting in a wooly hair phenotype in humans.
authors.affiliation: Department of Population Health and Reproduction, School of Veterinary Medicine, University of California - Davis, Davis, California, United States of America.
authors.forename: Barbara
authors.initials: B
authors.lastname: Gandolfi
authors.forename: Hasan
authors.initials: H
authors.lastname: Alhaddad
authors.forename: Verena K
authors.initials: VK
authors.lastname: Affolter
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Brockman
authors.forename: Jens
authors.initials: J
authors.lastname: Haggstrom
authors.forename: Shannon E K
authors.initials: SE
authors.lastname: Joslin
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Koehne
authors.forename: James C
authors.initials: JC
authors.lastname: Mullikin
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Outerbridge
authors.forename: Wesley C
authors.initials: WC
authors.lastname: Warren
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Lyons
mesh_terms: D000818:Animals; D001947:Breeding; D002415:Cats / Q000235:genetics*; D060005:Genotyping Techniques; D006197:Hair; D018859:Hair Follicle / Q000648:ultrastructure; D006239:Haplotypes; D006720:Homozygote; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D049368:Receptors, Lysophosphatidic Acid / Q000235:genetics*; D018048:Receptors, Purinergic P2 / Q000235:genetics; D013045:Species Specificity
chemical_list: D049368:Receptors, Lysophosphatidic Acid; D018048:Receptors, Purinergic P2