Pangenome obtained by long-read sequencing of 11 genomes reveal hidden functional structural variants in pigs

Autor: Yi-Fan Jiang, Sheng Wang, Chong-Long Wang, Ru-Hai Xu, Wen-Wen Wang, Yao Jiang, Ming-Shan Wang, Li Jiang, Li-He Dai, Jie-Ru Wang, Xiao-Hong Chu, Yong-Qing Zeng, Ling-Zhao Fang, Dong-Dong Wu, Qin Zhang, Xiang-Dong Ding
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: iScience, Vol 26, Iss 3, Pp 106119- (2023)
Druh dokumentu: article
ISSN: 2589-0042
DOI: 10.1016/j.isci.2023.106119
Popis: Summary: Long-read sequencing (LRS) facilitates both the genome assembly and the discovery of structural variants (SVs). Here, we built a graph-based pig pangenome by incorporating 11 LRS genomes with an average of 94.01% BUSCO completeness score, revealing 206-Mb novel sequences. We discovered 183,352 nonredundant SVs (63% novel), representing 12.12% of the reference genome. By genotyping SVs in an additional 196 short-read sequencing samples, we identified thousands of population stratified SVs. Particularly, we detected 7,568 Tibetan specific SVs, some of which demonstrate significant population differentiation between Tibetan and low-altitude pigs, which might be associated with the high-altitude hypoxia adaptation in Tibetan pigs. Further integrating functional genomic data, the most promising candidate genes within the SVs that might contribute to the high-altitude hypoxia adaptation were discovered. Overall, our study generates a benchmark pangenome resource for illustrating the important roles of SVs in adaptive evolution, domestication, and genetic improvement of agronomic traits in pigs.
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