Molecular characterization, polymorphism and association of Keratin-Associated Protein 13.1 (KAP13.1) gene in Changthangi goats

In this study, characterization ofKAP13.1gene and polymorphism analysis in Changthangi goat population was attempted. Association of genotype and sex withPashminaproduction traits (diameter, yield, and down thickness) was also assessed. After PCR amplification, restriction digestion withPvuIIand sequencing (in both directions) of KAP13.1 gene were done. Mutation at nucleotide position g. 171 T > G was observed inKAP13.1gene. This SNP created a restriction site forPvuIIand an important missense mutation inKAP13.1protein, causing a change of codon from CTG (Leucine) >CGG (Arginine). The frequencies of A(1)A(1), A(2)A(2)and A(1)A(2)genotypes based on the observed polymorphic patterns ofKAP13.1gene of Changthangi goats were 0.00, 0.427 and 0.573, respectively. Genotypic distribution of the genotypes of a 501bp fragment ofKAP13.1gene varied significantly (P < 0.05) from Hardy-Weinberg equilibrium. The variability parameters for the two gene loci analyzed were as heterozygosity: 0.3360; PIC: 0.27950; Effective allele no: 1.5059; and Shannon index I: 0.5187. The effect of sex on fiber production was statistically significant. The nucleotide and protein sequences showed close homologyamong bovine, ovineandcaprinesequences. The present study revealed the genetic polymorphism ofKAP13.1gene locus and negative association with fiber traits.