研究哺乳动物蹄色的特征对于动物的遗传改善很重要。更深的黑色蹄色是繁殖纯种澳大利亚白(AUW)绵羊的标准,该表型可用作纯种动物的表型标记。我们使用来自577只澳大利亚白羊(黑蹄色=283,灰蹄色=106,琥珀色=186)的限制性位点相关DNA测序(RAD-seq)数据进行了全基因组关联研究(GWAS)分析,并利用EMMAX中的混合线性模型进行了关联分析。GWAS的结果表明,小眼症相关转录因子(MITF)基因内含子14的特定单核苷酸多态性(SNP;g。33097911G>A)与AUW绵羊的蹄色显着相关(p=9.40×10-36)。MITF基因在发育过程中起着关键作用,分化,和黑素细胞的功能调节。此外,在一组212名个体中验证了该位点与蹄色之间的关联(黑蹄色=122,灰蹄色=38,琥珀色=52).结果表明,AUW羊的蹄色与GG,AG,AA基因型倾向于黑色,灰色,琥珀色,分别。这项研究为AUW绵羊的蹄色遗传学提供了新的见解,增强我们对各种蹄色的遗传机制的理解。我们的结果与以前的研究一致,并为标记辅助选择绵羊蹄色提供了分子标记。
Studying the characteristics of mammalian hoof colors is important for genetic improvements in animals. A deeper black hoof color is the standard for breeding purebred Australian White (AUW) sheep and this phenotype could be used as a phenotypic marker of purebred animals. We conducted a genome-wide association study (GWAS) analysis using restriction site associated DNA sequencing (RAD-seq) data from 577 Australian White sheep (black hoof color = 283, grey hoof color = 106, amber hoof color = 186) and performed association analysis utilizing the mixed linear model in EMMAX. The results of GWAS demonstrated that a specific single-nucleotide polymorphism (SNP; g. 33097911G>A) in intron 14 of the microphthalmia-associated transcription factor (MITF) gene was significantly associated with the hoof color in AUW sheep (p = 9.40 × 10-36). The MITF gene plays a key role in the development, differentiation, and functional regulation of melanocytes. Furthermore, the association between this locus and hoof color was validated in a cohort of 212 individuals (black hoof color = 122, grey hoof color = 38, amber hoof color = 52). The results indicated that the hoof color of AUW sheep with GG, AG, and AA genotypes tended to be black, grey, and amber, respectively. This study provided novel insights into hoof color genetics in AUW sheep, enhancing our comprehension of the genetic mechanisms underlying the diverse range of hoof colors. Our results agree with previous studies and provide molecular markers for marker-assisted selection for hoof color in sheep.