Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats |
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Authors: | Kehler James S David Victor A Schäffer Alejandro A Bajema Kristina Eizirik Eduardo Ryugo David K Hannah Steven S O'Brien Stephen J Menotti-Raymond Marilyn |
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Affiliation: | The Laboratory of Genomic Diversity, National Cancer Institute-Frederick, Frederick, MD 21702, USA. jkehler@ncifcrf.gov |
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Abstract: | To determine the genetic regulation of "hair length" in the domestic cat, a whole-genome scan was performed in a multigenerational pedigree in which the "long-haired" phenotype was segregating. The 2 markers that demonstrated the greatest linkage to the long-haired trait (log of the odds > or = 6) flanked an estimated 10-Mb region on cat chromosome B1 containing the Fibroblast Growth Factor 5 (FGF5) gene, a candidate gene implicated in regulating hair follicle growth cycle in other species. Sequence analyses of FGF5 in 26 cat breeds and 2 pedigrees of nonbreed cats revealed 4 separate mutations predicted to disrupt the biological activity of the FGF5 protein. Pedigree analyses demonstrated that different combinations of paired mutant FGF5 alleles segregated with the long-haired phenotype in an autosomal recessive manner. Association analyses of more than 380 genotyped breed and nonbreed cats were consistent with mutations in the FGF5 gene causing the long-haired phenotype in an autosomal recessive manner. In combination, these genomic approaches demonstrated that FGF5 is the major genetic determinant of hair length in the domestic cat. |
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