Abstract

Though the melanophilin (MLPH) gene has been characterized as one of the candidate genes for coat color dilution in human, mice and dog, little is known about this gene in sheep and goat. In this study, a missense mutation of g.11584A>G in exon 10 of goat MLPH gene was determined according to the sequence EU316218previously obtained. Meanwhile the PCR-RFLP of this mutation was performed in 304 individuals from 9 goat breeds/strains, with different coat colors, widely distributed in China in order to investigate its association with coat color and its differentiation among populations. The results showed that allele A was the superior allele, while allele G was mostly found in Chengdu Ma goat and Nanjiang Brown goat (including three strains), in which homozygote GG was only found. It could be inferred that the allele G might be a candidate site for the particular dilute coat color (tan) found in Nanjiang Brown goat and Chengdu Ma goat. Hardy-Weinberg equilibrium test showed that the 9 subpopulations were all in equilibrium at 0.05 rejection level. Chengdu Ma goat, Nanjiang Brown goat (High fertility strain) and Nanjiang Brown goat (Black strain) performed plus values of Wright’s fixation index. Genetic diversity of this mutation site was lower than that based on mtDNA reported.

Key words: Melanophilin, goat, transition, populations