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莱茵兰德国挽马的纯合性基因组模式与遗传多样性

Genomic Patterns of Homozygosity and Genetic Diversity in the Rhenish German Draught Horse.

作者信息

Sievers Johanna, Distl Ottmar

机构信息

Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany.

出版信息

Genes (Basel). 2025 Mar 11;16(3):327. doi: 10.3390/genes16030327.

Abstract

BACKGROUND/OBJECTIVES: The Rhenish German draught horse is an endangered German horse breed, originally used as working horse in agriculture. Therefore, the objective of this study was to evaluate the breed's genetic diversity using pedigree and genomic data in order to analyze classical and ancestral pedigree-based inbreeding, runs of homozygosity, ROH islands, and consensus ROH.

METHODS

We studied the genome-wide genotype data of 675 Rhenish German draught horses and collated pedigree-based inbreeding coefficients for these horses. The final dataset contained 64,737 autosomal SNPs.

RESULTS

The average number of ROH per individual was 43.17 ± 9.459 with an average ROH length of 5.087 Mb ± 1.03 Mb. The average genomic inbreeding coefficient F was 0.099 ± 0.03, the pedigree-based classical inbreeding coefficient F 0.016 ± 0.021, and ancestral inbreeding coefficients ranged from 0.03 (F) to 0.51 (Ahc). Most ROH (55.85%) were classified into the length category of 2-4 Mb, and the minority (0.43%) into the length category of >32 Mb. The effective population size (N) decreased in the last seven generations (~65 years) from 189.43 to 58.55. Consensus ROH shared by 45% of the horses were located on equine chromosomes 3 and 7, while ROH islands exceeding the 99th percentile threshold were identified on chromosomes 2, 3, 5, 7, 9, 10, and 11. These ROH islands contained genes associated with morphological development ( cluster), fertility (, , and ), muscle growth, and skin physiology ( gene cluster).

CONCLUSIONS

This study highlights how important it is to monitor genetic diversity in endangered populations with genomic data. The results of this study will help to develop breeding strategies to ensure the conservation of the German Rhenish draught horse population and show whether favorable alleles from the overrepresented candidate genes within ROH were transmitted to the next generation.

摘要

背景/目的:莱茵兰德国挽马是一种濒危的德国马品种,最初用作农业役用马。因此,本研究的目的是利用系谱和基因组数据评估该品种的遗传多样性,以分析基于经典系谱和祖先系谱的近亲繁殖、纯合子连续片段、纯合子连续片段岛和共有纯合子连续片段。

方法

我们研究了675匹莱茵兰德国挽马的全基因组基因型数据,并整理了这些马基于系谱的近亲繁殖系数。最终数据集包含64,737个常染色体单核苷酸多态性。

结果

每匹马的平均纯合子连续片段数量为43.17±9.459,平均纯合子连续片段长度为5.087 Mb±1.03 Mb。平均基因组近亲繁殖系数F为0.099±0.03,基于系谱的经典近亲繁殖系数F为0.016±0.021,祖先近亲繁殖系数范围为0.03(F)至0.51(Ahc)。大多数纯合子连续片段(55.8

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1d7/11942601/1f1209e8d804/genes-16-00327-g001.jpg

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