Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
Journal of Heredity
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 ≥ 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.
Kehler, J. S.; Victor A. David; Alejandro A. Schaffer; Kristina Bajema; Eduardo Eizirik; David K. Ryugo; Steven S. Hannah; Stephen J. O'Brien; and Marilyn Menotti-Raymond. 2007. "Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats." Journal of Heredity 98, (6): 555-566. http://nsuworks.nova.edu/cnso_bio_facarticles/501