Abstract: In the present study, the keratins and Keratin-Associated Proteins (KAPs) are one of the largest gene families in mammalian genomes encode, which is a heterogeneous group of proteins that make up about 90% of the cashmere fiber. Also, it regarded as a candidate gene of cashmere production traits. In this study, we aimed to detect polymorphisms of KAP16.6 gene and to investigated their associations with cashmere production traits (fiber diameter, cashmere yield, down cashmere thickness, body weight after combed cashmere) of three local goat breeds in China. In Xinjiang goat, statistical evaluation revealed significant differences (p<0.05) between the fiber diameter and cashmere yield trait of GG genotype. In Nanjiang cashmere goat, it is no significant differences (p>0.05) between cashmere production traits. The missense mutation of KAP16.6 gene in 816 cashmere goat samples was firstly detected in three of Xinjiang local goat breeds. Also, parts of these samples were sequenced. The results showed that frequencies of the KAP16.6-G allele in Xinjiang goat (n = 220), Nanjiang cashmere goat (n = 310) and BoGeDa cashmere goat breeds (n = 286) were 0.705, 0.603 and 0.600, respectively. The χ2 test showed that the genotype distributions in these three cashmere goat breeds were in agreement with Hardy-Weinberg equilibrium. According to the classification of PIC, BoGeDa cashmere goat was more polymorphic at this locus. Then a missense mutation was described at KAP16.6 locus in Xinjiang local goat breeds for the first time. The results possibly revealed that the size polymorphism existed in the three Xinjiang local goat breeds.
W.J. Liu, Y. Fang, G.X. Fang, M. Wang, H. Yu, X.L. Li, T.T. Feng, H. Chen and S. G. Yu, 2009. Missense Mutation of KAP16.6 Gene on Three Goat Breeds in China and Their Associations with Cashmere Production Traits. Journal of Animal and Veterinary Advances, 8: 2713-2718.