A novel genetic variant of the goat Six6 gene and its association with production traits in Chinese goat breeds.

We looked for novel genetic variations within the Six6 gene by PCR-SSCP, DNA sequencing and forced RFLP-PCR and estimated their associations with production traits in 2132 goats of eight indigenous Chinese breeds. A novel single nucleotide polymorphism (NM_001104993.1: g.232T>C) within the goat Six6 gene was identified. The frequencies of allele "C" varied from 0.8621 to 1.000, which were in Hardy-Weinberg equilibrium. Genotype and allele frequencies were found to be significantly different in the breeds. Association analysis revealed a significant relationship between genotypes and cannon circumference in Hainan black goats (P = 0.047); adult individuals with genotype CT showed higher cannon circumference than those with genotype CC. Another significant association of genotypes with five-year-old fiber length was found in Inner Mongolia white cashmere goats (P = 0.002). In addition, individuals with genotype CT had longer fiber length than those with genotype CC. The data revealed that the Six6 gene positively affects growth traits and cashmere traits. Polymorphism of Six6-PstI could be useful as a DNA marker for goat breeding and genetics via marker-assisted selection.