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利用全基因组序列数据检测中东马品种中受选择压力影响的常见拷贝数变异。

Detection of Common Copy Number of Variants Underlying Selection Pressure in Middle Eastern Horse Breeds Using Whole-Genome Sequence Data.

机构信息

Department of Animal Science, University of Zanjan, Zanjan 4537138791, Iran.

Department of Animal Science, Science and Research Branch, Islamic Azad University, Tehran 1477893855, Iran.

出版信息

J Hered. 2022 Jul 23;113(4):421-430. doi: 10.1093/jhered/esac027.

Abstract

Dareshouri, Arabian, and Akhal-Teke are 3 Middle Eastern horse breeds that have been selected for endurance and adaptation to harsh climates. Deciphering the genetic characteristics of these horses by tracing selection footprints and copy number of variations will be helpful in improving our understanding of equine breeds' development and adaptation. For this purpose, we sequenced the whole genome of 4 Dareshouri horses using Illumina Hiseq panels and compared them with publicly available whole-genome sequences of Arabian (n = 3) and Akhal-Teke (n = 3) horses. Three tests of FLK, hapFLK, and pooled heterozygosity were applied using a sliding window (window size = 100 kb, step size = 50 kb) approach to detect putative selection signals. Copy number variation analysis was applied to investigate copy number of variants (CNVs), and the results were used to suggest selection signatures involving CNVs. Whole-genome sequencing demonstrated 8 837 950 single-nucleotide polymorphisms (SNPs) in autosomal chromosomes. We suggested 58 genes and 3 quantitative trait loci, including some related to horse gait, insect bite hypersensitivity, and withers height, based on selective signals detected by adjusted P-value of Mahalanobis distance based on the rank-based P-values (Md-rank-P) method. We proposed 12 genomic regions under selection pressure involving CNVs that were previously reported to be associated with metabolism energy (SLC5A8), champagne dilution in horses (SLC36A1), and synthesis of polyunsaturated fatty acids (FAT2). Only 10 Middle Eastern horses were tested in this study; therefore, the conclusions are speculative. Our findings are useful to better understanding the evolution and adaptation of Middle Eastern horse breeds.

摘要

达雷什里马、阿拉伯马和阿克哈-塔克马是 3 种中东马品种,它们经过选育以具备耐力和适应恶劣气候的能力。通过追踪选择足迹和变异的拷贝数,解析这些马的遗传特征将有助于我们更好地理解马品种的发展和适应。为此,我们使用 Illumina Hiseq 面板对 4 匹达雷什里马进行了全基因组测序,并将其与公开的阿拉伯马(n = 3)和阿克哈-塔克马(n = 3)全基因组序列进行了比较。使用滑动窗口(窗口大小 = 100 kb,步长 = 50 kb)方法应用了 FLK、hapFLK 和混合杂合度三种测试,以检测潜在的选择信号。拷贝数变异分析用于研究变异的拷贝数(CNVs),并将结果用于提示涉及 CNVs 的选择特征。全基因组测序显示常染色体上有 8 837 950 个单核苷酸多态性(SNPs)。我们根据基于等级 P 值的 Mahalanobis 距离调整的 P 值(Md-rank-P)方法检测到的选择信号,提出了 58 个基因和 3 个数量性状位点,包括与马步态、昆虫叮咬过敏和肩高相关的基因和数量性状位点。我们提出了 12 个受选择压力影响的基因组区域,这些区域涉及之前报道与代谢能量(SLC5A8)、马香槟稀释(SLC36A1)和多不饱和脂肪酸合成(FAT2)相关的 CNVs。本研究仅测试了 10 匹中东马,因此结论具有推测性。我们的发现有助于更好地理解中东马品种的进化和适应。

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