从颈鹿的同源基因特征中获得的启示揭示了适应性成分的遗传结构。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2024-12-01 Epub Date: 2024-08-27 DOI:10.1007/s00335-024-10064-1
Rangasai Chandra Goli, Karan Mahar, Peela Sai Manohar, Kiyevi G Chishi, Immanual Gilwax Prabhu, Sonu Choudhary, Pallavi Rathi, Chandana Sree Chinnareddyvari, Pala Haritha, Muralidhar Metta, Mahantesh Shetkar, Amit Kumar, Chethan Patil N D, Vidyasagar, Nidhi Sukhija, K K Kanaka
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引用次数: 0

摘要

本研究调查了梅花鹿种群的基因组图谱,重点是同源染色体(ROH)的检测和特征描述,以及它们对体质成分的贡献。通过使用 85,001 个高置信度 SNPs,对 ROH 分布情况的调查揭示了个体间微妙的同源性模式,尤其是在 8 个农场中的 2 个农场,表现出较高的 ROH 水平和 ROH 片段下的平均基因组覆盖率。较短的 ROH 片段(0.5-4 Mb)的普遍存在表明这些种群中存在历史亲缘关系和潜在的选择压力。耐人寻味的是,尽管观察到的 ROH 图谱存在差异,但所有养殖场的总体基因组近交系数(FROH)仍然相对较低,这表明在所研究的梅花鹿种群中存在明显程度的遗传交流,并有效缓解了近交。研究发现,共识ROH(cROH)中含有重要功能基因,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、精子鞭毛组装所必需的SPEF2基因、参与热应激的DCLK3基因。这是首次对梅花鹿的 ROH 进行研究,旨在揭示这些同源区基因的适应性作用。从这项研究中获得的启示对这一脆弱物种的遗传多样性管理具有更广泛的意义。
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Insights from homozygous signatures of cervus nippon revealed genetic architecture for components of fitness.

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 (FROH) 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.

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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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