冰岛马和埃克斯穆尔马的遗传多样性和选择印记。

Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies.

机构信息

Department of Animal Biosciences, Swedish University of Agricultural Sciences, P.O. Box 7023, Uppsala, 75007, Sweden.

Faculty of Agricultural Sciences, Agricultural University of Iceland, Hvanneyri, Borgarbyggð, 311, Iceland.

出版信息

BMC Genomics. 2024 Aug 8;25(1):772. doi: 10.1186/s12864-024-10682-8.

Abstract

BACKGROUND

The Icelandic horse and Exmoor pony are ancient, native breeds, adapted to harsh environmental conditions and they have both undergone severe historic bottlenecks. However, in modern days, the selection pressures on these breeds differ substantially. The aim of this study was to assess genetic diversity in both breeds through expected (H) and observed heterozygosity (H) and effective population size (Ne). Furthermore, we aimed to identify runs of homozygosity (ROH) to estimate and compare genomic inbreeding and signatures of selection in the breeds.

RESULTS

H was estimated at 0.34 and 0.33 in the Icelandic horse and Exmoor pony, respectively, aligning closely with H of 0.34 for both breeds. Based on genomic data, the Ne for the last generation was calculated to be 125 individuals for Icelandic horses and 42 for Exmoor ponies. Genomic inbreeding coefficient (F) ranged from 0.08 to 0.20 for the Icelandic horse and 0.12 to 0.27 for the Exmoor pony, with the majority of inbreeding attributed to short ROHs in both breeds. Several ROH islands associated with performance were identified in the Icelandic horse, featuring target genes such as DMRT3, DOCK8, EDNRB, SLAIN1, and NEURL1. Shared ROH islands between both breeds were linked to metabolic processes (FOXO1), body size, and the immune system (CYRIB), while private ROH islands in Exmoor ponies were associated with coat colours (ASIP, TBX3, OCA2), immune system (LYG1, LYG2), and fertility (TEX14, SPO11, ADAM20).

CONCLUSIONS

Evaluations of genetic diversity and inbreeding reveal insights into the evolutionary trajectories of both breeds, highlighting the consequences of population bottlenecks. While the genetic diversity in the Icelandic horse is acceptable, a critically low genetic diversity was estimated for the Exmoor pony, which requires further validation. Identified signatures of selection highlight the differences in the use of the two breeds as well as their adaptive trait similarities. The results provide insight into genomic regions under selection pressure in a gaited performance horse breed and various adaptive traits in small-sized native horse breeds. This understanding contributes to preserving genetic diversity and population health in these equine populations.

摘要

背景

冰岛马和埃克斯穆尔小马是古老的本土品种,适应恶劣的环境条件,并且都经历了严重的历史瓶颈。然而,在现代,这两个品种的选择压力有很大的不同。本研究的目的是通过预期杂合度(H)和观测杂合度(H)和有效种群大小(Ne)评估这两个品种的遗传多样性。此外,我们旨在识别纯合子(ROH),以估计和比较品种的基因组近交和选择特征。

结果

冰岛马和埃克斯穆尔小马的 H 分别估计为 0.34 和 0.33,与这两个品种的 H 为 0.34 非常吻合。基于基因组数据,上一代的 Ne 计算为冰岛马 125 只,埃克斯穆尔小马 42 只。冰岛马的基因组近交系数(F)范围为 0.08 至 0.20,埃克斯穆尔小马的 F 范围为 0.12 至 0.27,这两个品种的大多数近交归因于短的 ROH。在冰岛马中鉴定出与性能相关的多个 ROH 岛,这些岛涉及到 DMRT3、DOCK8、EDNRB、SLAIN1 和 NEURL1 等靶基因。两个品种之间共享的 ROH 岛与代谢过程(FOXO1)、体型和免疫系统(CYRIB)有关,而埃克斯穆尔小马的特有 ROH 岛与毛色(ASIP、TBX3、OCA2)、免疫系统(LYG1、LYG2)和生育力(TEX14、SPO11、ADAM20)有关。

结论

遗传多样性和近交的评估揭示了两个品种进化轨迹的见解,强调了种群瓶颈的后果。虽然冰岛马的遗传多样性可以接受,但埃克斯穆尔小马的遗传多样性估计值非常低,这需要进一步验证。鉴定出的选择特征突出了两个品种的使用差异以及它们的适应性特征相似性。结果为了解步态性能马品种的受选择压力的基因组区域和小型本土马品种的各种适应性特征提供了信息。这种理解有助于保护这些马种群的遗传多样性和种群健康。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c9d/11308356/9418f7da4552/12864_2024_10682_Fig1_HTML.jpg

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