# Novel mutation sites in the Bubaline MC1R gene

## TL;DR

This study identifies three new mutations in the MC1R gene of buffaloes, which may explain coat color variation and genetic diversity in Indonesian buffalo populations.

## Contribution

The study reports three novel non-synonymous mutations in the MC1R gene of buffaloes, contributing to understanding coat color genetics.

## Key findings

- Three novel mutations (c.26M, c.49Y, and c.50R) were identified in the MC1R gene of buffaloes.
- These mutations were consistently present in Toraya and Murrah buffalo populations.
- Structural predictions suggest the mutations may affect the function of the MC1R protein.

## Abstract

Buffalo (Bubalus bubalis) is an important livestock species raised for meat, milk, and draught purposes. In Indonesia, buffaloes with rare coat colors (e.g., white, striped) hold cultural significance, especially in Toraja funeral traditions. This study aimed to identify mutation sites in the exon 1 region (822 bp) of the Melanocortin 1 Receptor (MC1R) gene in buffaloes using forward sequencing.

Four Toraya buffaloes (1 white, 2 striped, and 1 black) and two black Murrah buffaloes were used as experimental animals. In addition, seven MC1R gene sequences from different buffalo breeds (Murrah × Dehong (light grey), Dehong (white and dark grey), Murrah (black), Jafarabadi (black), and Surti (brown)) were obtained from the NCBI database for comparative analysis.

A total of five nucleotide variation sites were identified in the experimental animals, including three novel mutations (c.26M, c.49Y, and c.50R) and two previously reported mutations (c.170R and c.244K). Among these, c.50R was identified as a synonymous mutation, while the remaining mutations were non-synonymous and predicted to affect the amino acid sequence of the MC1Rprotein. Notably, all three novel mutation sites were consistently present in all studied Toraya and Murrah buffaloes, suggesting shared genetic variants across phenotypically distinct populations. Structural prediction analysis indicated that these mutations could potentially alter the conformation and function of the MC1R protein.

The identification of three novel mutations in the MC1R gene enhances our understanding of coat color variation and genetic diversity in Indonesian buffalo populations, particularly those of cultural and economic significance.