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
{"title":"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。","authors":"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","doi":"10.1007/s00335-024-10064-1","DOIUrl":null,"url":null,"abstract":"<p><p>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<sub>ROH</sub>) 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.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":"657-672"},"PeriodicalIF":2.7000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Insights from homozygous signatures of cervus nippon revealed genetic architecture for components of fitness.\",\"authors\":\"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\",\"doi\":\"10.1007/s00335-024-10064-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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<sub>ROH</sub>) 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. 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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.
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.