Melanocortin 1 receptor (MC1R) gene polymorphism and its association with coat colour patterns in Nagpuri and Purnathadi buffaloes

Melanin is the pigment of skin (coat) and hairs in all mammals. The 954 bp long MC1R gene codes for the production of MC1R or the α-MSH receptors which are present on the melanosomes. These receptors regulate the synthesis of melanin pigments viz., eumelanin or phaeomelanin leading to black and reddish to yellowish pigmentations respectively. PCR-RFLP analysis of 138 bp region of MC1R gene was conducted in two buffalo populations having distinct coat colours; Nagpuri (black) and Purnathadi (whitish). Three genotypes, EDED, EDE* and E*E* were observed at frequencies of 0.86, 0.03 and 0.11 for Nagpuri and 0.74, 0.08 and 0.18 in Purnathadi buffaloes; similarly the observed gene frequencies for ED and E* alleles were 0.87, 0.13 and 0.78, 0.22 in Nagpuri and Purnathadi buffaloes, respectively. DNA-sequencing revealed a transition mutation (A→G) at 118 bp locus confirming polymorphism, however presence in both the population failed to point towards any specific role in body coat colour of buffaloes.