畜牧兽医学报 ›› 2025, Vol. 56 ›› Issue (10): 4947-4962.doi: 10.11843/j.issn.0366-6964.2025.10.016

• 遗传育种 • 上一篇    下一篇

基于全基因组重测序分析雷州山羊群体遗传多样性和群体结构

冯达(), 魏趁*(), 胡思怡, 杜春梅, 马健, 吴江, 周光现, 甘尚权*()   

  1. 广东海洋大学滨海农业学院,湛江 524088
  • 收稿日期:2025-03-13 出版日期:2025-10-23 发布日期:2025-11-01
  • 通讯作者: 魏趁,甘尚权 E-mail:fda_1020@163.com;weichenwjf@126.com;shangquangan@gdou.edu.cn
  • 作者简介:冯达(1999-),男,河南濮阳人,硕士生,主要从事羊遗传育种研究,E-mail: fda_1020@163.com
  • 基金资助:
    广东省普通高校创新团队项目(2024KCXTD040);广东海洋大学科研启动经费资助项目(060302052308;060302052406)

Genetic Diversity and Population Structure Analysis of Leizhou Goat Based on Whole Genome Resequencing Analysis

FENG Da(), WEI Chen*(), HU Siyi, DU Chunmei, MA Jian, WU Jiang, ZHOU Guangxian, GAN Shangquan*()   

  1. College of Coastal Agricultural Sciences, Guangdong Ocean University, Zhanjiang 524088, China
  • Received:2025-03-13 Online:2025-10-23 Published:2025-11-01
  • Contact: WEI Chen, GAN Shangquan E-mail:fda_1020@163.com;weichenwjf@126.com;shangquangan@gdou.edu.cn

摘要:

旨在解析雷州山羊的群体遗传多样性和遗传结构,为其种质资源的保护与可持续利用提供理论依据。本研究采集了20只雷州山羊的血液样本进行了全基因组重测序,平均测序深度约为10×,同时从NCBI数据库下载了43头山羊的全基因组数据(包括云上黑山羊、金堂黑山羊、济宁青山羊、西藏山羊和隆林山羊)。基于全基因组数据,利用PopLDdecay软件进行了连锁不平衡(LD)分析;利用Plink软件计算了个体间遗传距离(IBS),并通过GCTA软件构建亲缘关系矩阵;此外,采用Plink软件进行主成分分析(PCA),利用Phylip软件构建邻接法(NJ)系统发育树,并通过ADMIXTURE软件进行群体结构分析及可视化,评估山羊群体的群体结构和遗传多样性。最后分析连续性纯合片段(ROH)以及计算群体间遗传分化指数(FST), 对鉴定到的区间进行基因注释和功能富集分析。结果共检测到18 810 921个SNPs,其中大部分位于基因间区(65.71%)。雷州山羊的HO、HE、MAF、Pi、PIC、Ne和FIS分别为0.298、0.295、0.211、0.001 8、0.808、65.488和0.086,其中HO高于HE,表明其群体遗传多样性处于正常水平。LD分析显示,雷州山羊的LD衰减速度最快,表明其群体遗传多样性较高且基因组受选择程度较低。IBS距离矩阵和亲缘关系G矩阵分析结果表明,雷州山羊群体内个体间亲缘关系较近,但与其他山羊群体存在显著遗传分化。ROH结果显示雷州山羊群体具有较低的近交水平。PCA结果显示,雷州山羊群体呈现离散分布且独立于其他群体;NJ系统发育树进一步支持雷州山羊形成独立分支;群体结构分析表明,当K=3时群体结构最佳,此时雷州山羊表现出独特的遗传结构。基于全基因组FST分析,筛选前1%的高分化位点后,发现ADGRL3、CXCR1和HTR1F基因区域存在显著选择信号,提示这些基因可能与适应性相关。本研究全面解析了雷州山羊遗传多样性、亲缘关系和群体遗传结构,为其遗传背景的深入理解提供了科学依据,同时为制定科学的保种策略和开发利用方案奠定了理论基础。

关键词: 雷州山羊, 全基因组重测序, 遗传多样性, 群体结构

Abstract:

The objective of this study was to investigate the genetic diversity and population structure of Leizhou goats to provide the theoretical basis for conservation and sustainable utilization of their germplasm resources. In this study, whole-genome resequencing was performed on blood samples from 20 Leizhou goats, with an average sequencing depth of ~10×. The genome-wide data from 43 additional goats was downloaded, including Yunshang black goats, Jintang black goats, Jining grey goats, Tibetan goats, and Longlin goats, from the NCBI database. Using these whole-genome data, then linkage disequilibrium (LD) analysis was performed using PopLDdecay software. We calculated genetic distances using Plink software and constructed and visualized a genetic relationship matrix using GCTA software. In addition, we employed Plink for principal component analysis (PCA), Phylip to construct a neighbor-joining (NJ) phylogenetic tree, and ADMIXTURE for population structure analysis, collectively assessing the genetic diversity and population structure of goat populations. Finally, runs of homozygosity (ROH) were analyzed and fixation index (FST) values between populations were calculated. Subsequently, the identified genomic regions were annotated for candidate genes and subjected to functional enrichment analysis. We identified a total of 18 810 921 SNPs, with the majority (65.71%) located in intergenic regions. For Leizhou goats, we found the overall average values of HO, HE, MAF, Pi, PIC, Ne and FIS were 0.298, 0.295, 0.211, 0.001 8, 0.808, 65.488 and 0.086, respectively. The higher HO compared to HE indicated normal levels of population genetic diversity. For LD analysis, we found the fastest LD decay in Leizhou goats, suggesting higher genetic diversity and weaker selection pressure on their genome. We calculated identity-by-state (IBS) distance matrices and genetic relationship matrices (G matrices), which demonstrated close genetic relatedness among Leizhou goats but significant genetic differentiation from other goat populations. Analysis of ROH revealed that the Leizhou goat population exhibited a reduced inbreeding level. Using PCA, we observed discrete clustering of Leizhou goats, clearly distinguishing them from other populations. We constructed a neighbor-joining (NJ) phylogenetic tree, which further supported the independent evolutionary branch of Leizhou goats. For population structure analysis, we determined that the optimal clustering occurred at K=3, revealing a unique genetic architecture in Leizhou goats. Genome-wide FST analysis identified significant selection signals in the ADGRL3, CXCR1, and HTR1F gene regions after screening the top 1% of highly differentiated loci, suggesting these genes may be associated with adaptation. In this study, we comprehensively analyzed the genetic diversity, kinship relationships, and population structure of Leizhou goats. The study results provide a scientific basis for understanding the genetic background of Leizhou goats and lay a theoretical foundation for developing effective conservation strategies and sustainable utilization plans.

Key words: Leizhou goat, whole genome resequencing, genetic diversity, population structure

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