GeneSeek-Neogen PorcineSNP80 BeadChip

The Wuzhishan pig breed exhibits three different coat color phenotypes (white, black, and black-back/white-belly). The coat color variation is worth studying. The 61 white, 96 black-back-white-belly, and 58 black Wuzhishan pigs were used to conduct a genome-wide association analysis. 97 genome-wide significant SNPs on chromosome 8 are related to coat colour.RAPGEF2, PDGFRA and KIT genes were identified as candidate genes for coat color variation by haplotype-sharing analysis and Gene ontology analysis. SNPs genotyping and mRNA expression analysis further confirmed RAPGEF2 and PDGFRA as potential candidate genes. KIT was confirmed as a potential candidate gene for white coat color by duplication and splice mutation detection. Our study may also shed light on the complex genetic background of coat colour variation in animals.

五指山猪（Wuzhishan pig）品种存在三种不同的被毛颜色表型：白色、黑色以及黑背白腹型（black-back/white-belly），其被毛颜色变异具有重要研究价值。本研究选取61头白色、96头黑背白腹型及58头黑色五指山猪开展全基因组关联分析，在8号染色体上鉴定到97个与被毛颜色相关的全基因组显著单核苷酸多态性（Single Nucleotide Polymorphism，SNP）。通过单体型共享分析与基因本体（Gene Ontology，GO）分析，鉴定出RAPGEF2、PDGFRA与KIT基因为被毛颜色变异的候选基因。经单核苷酸多态性基因分型与mRNA表达分析，进一步证实RAPGEF2和PDGFRA为潜在候选基因；通过基因复制与剪接突变检测，确认KIT为与白色被毛相关的潜在候选基因。本研究可为解析动物被毛颜色变异的复杂遗传背景提供参考。