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南非恩古尼牛两个保育牛群的连锁不平衡、单倍型块结构、有效种群大小及全基因组选择特征

Linkage Disequilibrium, Haplotype Block Structures, Effective Population Size and Genome-Wide Signatures of Selection of Two Conservation Herds of the South African Nguni Cattle.

作者信息

Dlamini Njabulo M, Dzomba Edgar F, Magawana Mpumelelo, Ngcamu Sphamandla, Muchadeyi Farai C

机构信息

Discipline of Genetics, School of Life Sciences, University of KwaZulu-Natal, Private Bag X01, Scottsville, Pietermaritzburg 3209, South Africa.

Agricultural Research Council, Biotechnology Platform, Private Bag X5, Onderstepoort, Pretoria 0110, South Africa.

出版信息

Animals (Basel). 2022 Aug 19;12(16):2133. doi: 10.3390/ani12162133.

DOI:10.3390/ani12162133
PMID:36009722
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9405234/
Abstract

The Nguni cattle of South Africa are a Sanga breed, characterized by many eco-types and research populations that have been established in an effort to conserve the diversity within the breed. The aim of this study was to investigate the overall genetic diversity as well as similarities and differences within and between two conservation herds of the South African Nguni Cattle. Mean LD () estimates were 0.413 ± 0.219 for Bartlow Combine and 0.402 ± 0.209 for Kokstad. Genome-wide average LD () decreased with increasing genetic marker distance for both populations from an average of 0.76 ± 0.28 and 0.77 ± 0.27 at 0-1 kb bin to 0.31 ± 0.13 and 0.32 ± 0.13 at 900-1000 kb bin in Bartlow Combine and Kokstad populations, respectively. Variation in LD levels across autosomes was observed in both populations. The results showed higher levels of LD than previously reported in Nguni field populations and other South African breeds, especially at shorter marker distances of less than 20 kb. A total number of 77,305 and 66,237 haplotype blocks covering a total of 1570.09 Mb (61.99% genome coverage) and 1367.42 Mb (53.96% genome coverage) were detected in Bartlow Combine and Kokstad populations, respectively. A total of 18,449 haploblocks were shared between the two populations while 58,856 and 47,788 haploblocks were unique to Bartlow Combine and Kokstad populations, respectively. Effective population size (N) results demonstrated a rapid decrease in N across generations for both Bartlow Combine and Kokstad conservation herds. Two complementary methods, integrated haplotype score (iHS) and Extend Haplotype Homozygosity Test (XP-EHH), were implemented in this study to detect the selection signatures in the two herds. A total of 553 and 166 selected regions were identified in Bartlow Combine and Kokstad populations, respectively. DAVID and GO terms analysis of the regions under selection reported genes/QTLs associated with fertility, carcass weight, coat colour, immune response, and eye area pigmentation. Some genes, such as (Class IB Antigen QA-2-Related), (Class Antigen QA-2-Related), and etc., were found in regions under selection in this study. Overall, the study implied reduced genetic diversity in the two herds calling for corrective measures to maintain the diversity of the South African Nguni cattle. This study presented a comprehensive analysis of the genomic architecture of South African Nguni cattle populations, providing essential genetic information of utility in the management of conservation flocks.

摘要

南非的恩古尼牛是一个桑加品种,其特点是有许多生态类型和研究群体,这些都是为保护该品种内部的多样性而建立的。本研究的目的是调查南非恩古尼牛两个保护畜群内部以及之间的总体遗传多样性以及异同之处。Bartlow Combine的平均连锁不平衡(LD)估计值为0.413±0.219,Kokstad的为0.402±0.209。两个群体的全基因组平均LD随着遗传标记距离的增加而降低,在Bartlow Combine群体中,从0-1kb区间的平均0.76±0.28降至900-1000kb区间的0.31±0.13;在Kokstad群体中,从0-1kb区间的平均0.77±0.27降至900-1000kb区间的0.32±0.13。在两个群体中均观察到常染色体上LD水平的变化。结果显示,与之前在恩古尼野外群体和其他南非品种中报道的相比,LD水平更高,尤其是在小于20kb的较短标记距离处。在Bartlow Combine群体和Kokstad群体中分别检测到总共77305个和66237个单倍型块,覆盖的基因组总量分别为1570.09Mb(基因组覆盖率61.99%)和1367.42Mb(基因组覆盖率53.96%)。两个群体之间共有18449个单倍型块,而Bartlow Combine群体和Kokstad群体分别有58856个和47788个单倍型块是各自独有的。有效种群大小(Ne)结果表明,Bartlow Combine和Kokstad保护畜群的Ne在各代中均迅速下降。本研究采用了两种互补方法,即综合单倍型评分(iHS)和扩展单倍型纯合性检验(XP-EHH)来检测两个畜群中的选择信号。在Bartlow Combine群体和Kokstad群体中分别鉴定出总共553个和166个选择区域。对选择区域的DAVID和GO术语分析报告了与繁殖力、胴体重量、毛色、免疫反应和眼区色素沉着相关的基因/数量性状位点。在本研究的选择区域中发现了一些基因,如(I类B抗原QA-2相关)、(I类抗原QA-2相关)等。总体而言,该研究表明这两个畜群的遗传多样性有所减少,需要采取纠正措施来维持南非恩古尼牛的多样性。本研究对南非恩古尼牛群体的基因组结构进行了全面分析,为保护畜群的管理提供了重要的遗传信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db10/9405234/9766c621db16/animals-12-02133-g010.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db10/9405234/09c76cb23a57/animals-12-02133-g009.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db10/9405234/4a5e618b4b3a/animals-12-02133-g006.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db10/9405234/9766c621db16/animals-12-02133-g010.jpg

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