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. 2025 Jul 10;15(14):2026.
doi: 10.3390/ani15142026.

Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats

Fuki Kawaguchi  1 , Amane Shaku  1 , Manoj Kumar Shah  2 , Joseph S Masangkay  3 , Hideyuki Mannen  1 , Shinji Sasazaki  1
Affiliations

Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats

Fuki Kawaguchi et al. Animals (Basel). .

Abstract

Mammals display a wide range of coat colors, with the melanocortin 1 receptor gene (MC1R) playing a pivotal role in the genetic regulation of pigmentation. In this study, we investigated MC1R genetic variants in goat populations from four Asian countries to identify genetic factors associated with coat color variation. The complete coding sequence of MC1R was analyzed to detect variants and determine genotypes in goats from Nepal (n = 122), the Philippines (n = 110), Cambodia (n = 30), and Kazakhstan (n = 30). Seven variants were identified, three of which were novel, while four had been previously reported in other goat populations. Among the novel variants, a frameshift mutation (c.147delG) unique to Nepalese goats was predicted to cause substantial disruption of the MC1R protein structure, suggesting its potential role in coat color determination. Additionally, two known missense variants (c.676A > G and c.801C > G) were inferred to affect MC1R function and may contribute to pigmentation variation. Further investigations with larger sample sizes are warranted to clarify the phenotypic effects of these genotypic variants and to better understand the genetic basis of coat color in goats.

Keywords: Asia; MC1R; coat color; gene variants; goat.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Coat colors in Asian goats. (A) black, (B) brown, (C) white, (D) black/brown, (E) black/white, (F) brown/white, (G) black/brown/white, (H) roan (black).
Figure 2
Figure 2
Secondary structure of MC1R with variant locations. TM: transmembrane domain, EL: extracellular loop, IL: intracellular loop.
See this image and copyright information in PMC

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