Animal Molecular Breeding 2024, Vol.14, No.2, 165-177 http://animalscipublisher.com/index.php/amb 165 Research Insight Open Access Genetic Analysis of Coat Color Variations in Domestic Rabbits Xinghao Li, Jia Xuan Institute of Life Science, Jiyang College of Zhejiang AandF University, Zhuji, 311800, Zhejiang, China Corresponding author: jia.xuan@jicat.org Animal Molecular Breeding, 2024, Vol.14, No.2 doi: 10.5376/amb.2024.14.0018 Received: 06 Feb., 2024 Accepted: 18 Mar., 2024 Published: 31 Mar., 2025 Copyright © 2024 Li and Xuan, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Li X.H., and Xuan J., 2024, Genetic analysis of coat color variations in domestic rabbits, Animal Molecular Breeding, 14(2): 165-177 (doi: 10.5376/amb.2024.14.0018) Abstract This study investigates the genetic basis of coat color variations in domestic rabbits (Oryctolagus cuniculus) by analyzing several key genes associated with pigmentation, and sequences the melanocortin 1 receptor (MC1R) gene and identified four alleles, including two in-frame deletions linked to specific coat colors such as red/fawn/yellow and black. Additionally, single-nucleotide polymorphism (SNP) markers were used to explore fur color traits across different rabbit breeds, identifying genes like ASIP, MITF, and KIT that are associated with pigmentation. A frameshift mutation in the melanophilin(MLPH) gene was found to cause the dilute coat color phenotype, providing a model for human Griscelli syndrome type. Furthermore, a composite in-frame deletion in the MC1R gene was associated with the Japanese brindling coat color, suggesting complex regulatory mechanisms. A premature stop codon in the TYRP1 gene was linked to the brown coat color, highlighting its role in eumelanin production. These findings enhance our understanding of the genetic mechanisms underlying coat color variations in domestic rabbits and provide valuable insights for breeding programs. Keywords Coat color; Domestic rabbits; MC1R gene; SNP markers; Pigmentation genetics 1 Introduction Coat color in domestic rabbits (Oryctolagus cuniculus) is a highly variable trait influenced by both genetic and environmental factors. This phenotypic diversity is not only of aesthetic and economic importance but also provides a valuable model for studying genetic mechanisms of pigmentation. Historical studies have shown that coat color can evolve rapidly in response to environmental pressures, as evidenced by significant changes in rabbit populations over relatively short periods (Stodart, 1965). The genetic basis of these variations is complex, involving multiple genes and their interactions. Key pigmentation genes such as MC1R, MITF, TYR, TYRP1, and MLPHhave been identified as major contributors to coat color diversity in rabbits (Jia et al., 2021). Understanding the genetic underpinnings of coat color in rabbits is crucial for several reasons. It has direct implications for the rabbit breeding industry, where specific coat colors are often preferred for commercial purposes, such as in the Rex rabbit industry (Zhang et al., 2023). Studying these genetic variations can provide insights into the broader mechanisms of pigmentation, which are relevant to other species, including humans. Additionally, identifying genetic markers associated with coat color can aid in the conservation and management of rabbit breeds, ensuring the preservation of genetic diversity (Jia et al., 2021; Zhang et al., 2023). This study conducts a comprehensive genetic analysis of coat color variation in domestic rabbits, identifying and characterizing genetic variations associated with different coat colors across various breeds; using genome-wide association studies (GWAS) and sequencing technologies, it identifies specific single nucleotide polymorphisms (SNPs) and genomic regions that contribute to coat color diversity, ultimately aiming to deepen our understanding of the genetic architecture of rabbit coat color and provide valuable molecular markers for breeding programs. 2 Genetic Basis of Coat Color 2.1 Overview of pigmentation genes in mammals Pigmentation in mammals is primarily controlled by a set of key genes that regulate the production, distribution, and type of melanin produced in the skin and hair follicles. The two main types of melanin are eumelanin, which is black or brown, and pheomelanin, which is red or yellow. The balance and distribution of these pigments result in the wide variety of coat colors observed in mammals.
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