ICAR-National Dairy Research Institute, Karnal, Haryana, India.
ICAR-National Bureau of Animal Genetic Resources, Karnal, Haryana, India.
Mamm Genome. 2024 Dec;35(4):657-672. doi: 10.1007/s00335-024-10064-1. Epub 2024 Aug 27.
This study investigates the genomic landscape of Sika deer populations, emphasizing the detection and characterization of runs of homozygosity (ROH) and their contribution towards components of fitness. Using 85,001 high-confidence SNPs, the investigation into ROH distribution unveiled nuanced patterns of autozygosity across individuals especially in 2 out of the 8 farms, exhibiting elevated ROH levels and mean genome coverage under ROH segments. The prevalence of shorter ROH segments (0.5-4 Mb) suggests historical relatedness and potential selective pressures within these populations. Intriguingly, despite observed variations in ROH profiles, the overall genomic inbreeding coefficient (F) remained relatively low across all farms, indicating a discernible degree of genetic exchange and effective mitigation of inbreeding within the studied Sika deer populations. Consensus ROH (cROH) were found to harbor genes for important functions viz., EGFLAM gene which is involved in the vision function of the eye, SKP2 gene which regulates cell cycle, CAPSL involved in adipogenesis, SPEF2 which is essential for sperm flagellar assembly, DCLK3 involved in the heat stress. This first ever study on ROH in Sika deer, to shed light on the adaptive role of genes in these homozygous regions. The insights garnered from this study have broader implications in the management of genetic diversity in this vulnerable species.
本研究调查了梅花鹿种群的基因组景观,强调了对纯合区域(ROH)的检测和特征分析,以及它们对适应度组成部分的贡献。使用 85001 个高可信度 SNP,对 ROH 分布的研究揭示了个体间的细微自体同合模式,特别是在 8 个农场中的 2 个农场中,ROH 水平升高,ROH 片段下的平均基因组覆盖率增加。较短 ROH 片段(0.5-4 Mb)的出现表明了这些种群中存在历史亲缘关系和潜在的选择压力。有趣的是,尽管观察到 ROH 图谱存在差异,但所有农场的整体基因组近交系数(F)仍然相对较低,这表明在研究的梅花鹿种群中存在明显的遗传交换和对近交的有效缓解。共识 ROH(cROH)被发现含有重要功能的基因,例如参与眼睛视觉功能的 EGFLAM 基因、调节细胞周期的 SKP2 基因、参与脂肪生成的 CAPSL 基因、对精子鞭毛组装至关重要的 SPEF2 基因、参与热应激的 DCLK3 基因。这是首次对梅花鹿 ROH 的研究,揭示了这些纯合区域中基因的适应作用。这项研究的结果对管理这一脆弱物种的遗传多样性具有更广泛的意义。