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一个中国综合基因组揭示了大量从其他物种中引入的新型结构变异。

A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other species.

机构信息

Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.

Faculty of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, China.

出版信息

Genome Res. 2023 Aug;33(8):1284-1298. doi: 10.1101/gr.277481.122. Epub 2023 Sep 15.

Abstract

Chinese indicine cattle harbor a much higher genetic diversity compared with other domestic cattle, but their genome architecture remains uninvestigated. Using PacBio HiFi sequencing data from 10 Chinese indicine cattle across southern China, we assembled 20 high-quality partially phased genomes and integrated them into a multiassembly graph containing 148.5 Mb (5.6%) of novel sequence. We identified 156,009 high-confidence nonredundant structural variants (SVs) and 206 SV hotspots spanning ∼195 Mb of gene-rich sequence. We detected 34,249 archaic introgressed fragments in Chinese indicine cattle covering 1.93 Gb (73.3%) of the genome. We inferred an average of 3.8%, 3.2%, 1.4%, and 0.5% of introgressed sequence originating, respectively, from banteng-like, kouprey-like, gayal-like, and gaur-like species, as well as 0.6% of unknown origin. Introgression from multiple donors might have contributed to the genetic diversity of Chinese indicine cattle. Altogether, this study highlights the contribution of interspecies introgression to the genomic architecture of an important livestock population and shows how exotic genomic elements can contribute to the genetic variation available for selection.

摘要

与其他家牛相比,中国黄牛具有更高的遗传多样性,但它们的基因组结构仍未被研究过。利用来自中国南方 10 头中国黄牛的 PacBio HiFi 测序数据,我们组装了 20 个高质量的部分相位基因组,并将它们整合到一个多组装图谱中,其中包含 148.5Mb(5.6%)的新序列。我们鉴定出 156009 个高可信度的非冗余结构变异(SV)和 206 个 SV 热点,跨越约 195Mb 的基因丰富序列。我们在黄牛中检测到 34249 个古老的渐渗片段,覆盖了基因组的 1.93Gb(73.3%)。我们推断出,分别来自野水牛样、白肢野牛样、大额牛样和印度野牛样的渐渗序列的平均值为 3.8%、3.2%、1.4%和 0.5%,还有 0.6%的起源未知。来自多个供体的渐渗可能为中国黄牛的遗传多样性做出了贡献。总之,这项研究强调了种间渐渗对重要家畜群体基因组结构的贡献,并展示了外来基因组元素如何为可选择的遗传变异做出贡献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0482/10547261/fe3951b6d775/1284f01.jpg

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