College of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, China.
State Key Laboratory of Animal Biotech Breeding, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, China.
Genes (Basel). 2024 Feb 28;15(3):313. doi: 10.3390/genes15030313.
Runs of Homozygosity (ROH) are continuous homozygous DNA segments in diploid genomes, which have been used to estimate the genetic diversity, inbreeding levels, and genes associated with specific traits in livestock. In this study, we analyzed the resequencing data from 10 local goat breeds in Yunnan province of China and five additional goat populations obtained from a public database. The ROH analysis revealed 21,029 ROH segments across the 15 populations, with an average length of 1.27 Mb, a pattern of ROH, and the assessment of the inbreeding coefficient indicating genetic diversity and varying levels of inbreeding. iHS (integrated haplotype score) was used to analyze high-frequency Single-Nucleotide Polymorphisms (SNPs) in ROH regions, specific genes related to economic traits such as coat color and weight variation. These candidate genes include (OCA2 melanosomal transmembrane protein) and (melanophilin) associated with coat color, (EPH receptor A6) involved in litter size, (CDK5 regulatory subunit associated protein 1 like 1) and (proopiomelanocortin) linked to weight variation and some putative genes associated with high-altitude adaptability and immune. This study uncovers genetic diversity and inbreeding levels within local goat breeds in Yunnan province, China. The identification of specific genes associated with economic traits and adaptability provides actionable insights for utilization and conservation efforts.
纯合区域(Runs of Homozygosity,ROH)是二倍体基因组中连续的纯合 DNA 片段,已被用于估计遗传多样性、近交水平以及与家畜特定特征相关的基因。在这项研究中,我们分析了来自中国云南省 10 个本地山羊品种的重测序数据,以及来自公共数据库的另外 5 个山羊群体的数据。ROH 分析揭示了 15 个群体中的 21029 个 ROH 片段,平均长度为 1.27Mb,存在 ROH 模式,并评估了近交系数,表明遗传多样性和不同程度的近交。iHS(综合单倍型评分)被用于分析 ROH 区域中的高频单核苷酸多态性(SNP),以及与毛色和体重变化等经济特征相关的特定基因。这些候选基因包括与毛色相关的 (OCA2 黑素体跨膜蛋白)和 (黑素磷蛋白),与产仔数相关的 (EPH 受体 A6),与体重变化相关的 (CDK5 调节亚单位相关蛋白 1 样 1)和 (促黑激素原)以及一些与高原适应性和免疫相关的假定基因。本研究揭示了中国云南省本地山羊品种的遗传多样性和近交水平。鉴定与经济特征和适应性相关的特定基因,为利用和保护工作提供了可行的见解。