Mapping and functional characterization of structural variation in 1060 pig genomes

文献类型： 外文期刊

第一作者： Yang, Liu

作者： Yang, Liu;Yin, Hongwei;Bai, Lijing;Yao, Wenye;Tao, Tan;Zhao, Qianyi;Li, Kui;Yang, Liu;Gao, Yahui;Liu, George E.;Teng, Jinyan;Xu, Zhiting;Lin, Qing;Diao, Shuqi;Zhang, Zhe;Pan, Zhangyuan;Guan, Dailu;Zhou, Huaijun;Li, Bingjie;Zhou, Zhongyin;Zhao, Fuping;Wang, Qishan;Pan, Yuchun;Fang, Lingzhao

作者机构：

关键词： Pig; Structure variation; Population diversity; Gene expression; Functional genome

期刊名称：GENOME BIOLOGY （ 影响因子：10.1； 五年影响因子：16.5 ）

ISSN： 1474-760X

年卷期： 2024 年 25 卷 1 期

页码：

收录情况： SCI

摘要： Background: Structural variations (SVs) have significant impacts on complex phenotypes by rearranging large amounts of DNA sequence. Results: We present a comprehensive SV catalog based on the whole-genome sequence of 1060 pigs (Sus scrofa) representing 101 breeds, covering 9.6% of the pig genome. This catalog includes 42,487 deletions, 37,913 mobile element insertions, 3308 duplications, 1664 inversions, and 45,184 break ends. Estimates of breed ancestry and hybridization using genotyped SVs align well with those from single nucleotide polymorphisms. Geographically stratified deletions are observed, along with known duplications of the KIT gene, responsible for white coat color in European pigs. Additionally, we identify a recent SINE element insertion in MYO5A transcripts of European pigs, potentially influencing alternative splicing patterns and coat color alterations. Furthermore, a Yorkshire-specific copy number gain within ABCG2 is found, impacting chromatin interactions and gene expression across multiple tissues over a stretch of genomic region of similar to 200 kb. Preliminary investigations into SV's impact on gene expression and traits using the Pig Genotype-Tissue Expression (PigGTEx) data reveal SV associations with regulatory variants and gene-trait pairs. For instance, a 51-bp deletion is linked to the lead eQTL of the lipid metabolism regulating gene FADS3, whose expression in embryo may affect loin muscle area, as revealed by our transcriptome-wide association studies. Conclusions: This SV catalog serves as a valuable resource for studying diversity, evolutionary history, and functional shaping of the pig genome by processes like domestication, trait-based breeding, and adaptive evolution.

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