iScience (Mar 2023)

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

  • 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

Journal volume & issue
Vol. 26, no. 3
p. 106119

Abstract

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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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