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本地高山牛品种中正向选择的基因组区域。

Genomic regions underlying positive selection in local, Alpine cattle breeds.

作者信息

Signer-Hasler Heidi, Casanova Lucas, Barenco Alex, Maitre Blaise, Bagnato Alessandro, Vevey Mario, Berger Beate, Simčič Mojca, Boichon Denis, Capitan Aurélien, Medugorac Ivica, Bennewitz Jörn, Mészáros Gábor, Sölkner Johann, Drögemüller Cord, Flury Christine

机构信息

School of Agricultural, Forest and Food Sciences HAFL, Bern University of Applied Sciences, Zollikofen, Switzerland.

Braunvieh Schweiz, Zug, Switzerland.

出版信息

Anim Genet. 2023 Jun;54(3):239-253. doi: 10.1111/age.13295. Epub 2023 Feb 3.

DOI:10.1111/age.13295
PMID:36737525
Abstract

We used genome-wide SNP data from 18 local cattle breeds from six countries of the Alpine region to characterize population structure and identify genomic regions underlying positive selection. The geographically close breeds Evolèner, Eringer, Valdostana Pezzata Nera, and Valdostana Castana were found to differ from all other Alpine breeds. In addition, three breeds, Simmental, and Original Braunvieh from Switzerland and Pinzgauer from Austria built three separate clusters. Of the 18 breeds studied, the intra-alpine Swiss breed Evolèner had the highest average inbreeding based on runs of homozygosity (F ) and the highest average genomic relationship within the breed. In contrast, Slovenian Cika cattle had the lowest average genomic inbreeding and the lowest average genomic relationship within the breed. We found selection signatures on chromosome 6 near known genes such as KIT and LCORL explaining variation in coat color and body size in cattle. The most prominent selection signatures were similar regardless of marker density and the breeds in the data set. In addition, using available high-density SNP data from 14 of the breeds we identified 47 genome regions as ROH islands. The proportion of homozygous animals was higher in all studied animals of local breeds than in Holstein and Brown Swiss cattle, the two most important commercial breeds in the Alpine region. We report ROH islands near genes related to thermoregulation, coat color, production, and stature. The results of this study serve as a basis for the search for causal variants underlying adaptation to the alpine environment and other specific characteristics selected during the evolution of local Alpine cattle breeds.

摘要

我们使用了来自阿尔卑斯地区六个国家18个本地牛品种的全基因组SNP数据,以表征群体结构并识别正选择背后的基因组区域。发现地理位置相近的品种Evolèner、Eringer、瓦尔多斯塔纳佩扎塔内拉(Valdostana Pezzata Nera)和瓦尔多斯塔纳卡斯塔纳(Valdostana Castana)与所有其他阿尔卑斯品种不同。此外,三个品种,即瑞士的西门塔尔牛、原始布劳恩维牛(Original Braunvieh)和奥地利的平茨高尔牛(Pinzgauer)形成了三个独立的聚类。在所研究的18个品种中,基于纯合子片段(F),阿尔卑斯山区内的瑞士品种Evolèner具有最高的平均近亲繁殖率,且该品种内的平均基因组亲缘关系最高。相比之下,斯洛文尼亚契卡牛(Slovenian Cika cattle)的平均基因组近亲繁殖率最低,且该品种内的平均基因组亲缘关系最低。我们在6号染色体上靠近KIT和LCORL等已知基因的位置发现了选择信号,这些基因解释了牛的毛色和体型变异。无论标记密度和数据集中的品种如何,最显著的选择信号都是相似的。此外,利用14个品种现有的高密度SNP数据,我们将47个基因组区域鉴定为纯合子片段岛(ROH islands)。本地品种的所有研究动物中纯合动物的比例高于阿尔卑斯地区两个最重要的商业品种荷斯坦牛和瑞士褐牛。我们报告了与体温调节、毛色、生产和身高相关基因附近的纯合子片段岛。本研究结果为寻找本地阿尔卑斯牛品种进化过程中适应高山环境及其他特定特征的因果变异提供了基础。

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