iMeta (Feb 2024)

Duck pan‐genome reveals two transposon insertions caused bodyweight enlarging and white plumage phenotype formation during evolution

  • Kejun Wang,
  • Guoying Hua,
  • Jingyi Li,
  • Yu Yang,
  • Chenxi Zhang,
  • Lan Yang,
  • Xiaoyu Hu,
  • Armin Scheben,
  • Yanan Wu,
  • Ping Gong,
  • Shuangjie Zhang,
  • Yanfeng Fan,
  • Tao Zeng,
  • Lizhi Lu,
  • Yanzhang Gong,
  • Ruirui Jiang,
  • Guirong Sun,
  • Yadong Tian,
  • Xiangtao Kang,
  • Haifei Hu,
  • Wenting Li

DOI
https://doi.org/10.1002/imt2.154
Journal volume & issue
Vol. 3, no. 1
pp. n/a – n/a

Abstract

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Abstract Structural variations (SVs) are a major source of domestication and improvement traits. We present the first duck pan‐genome constructed using five genome assemblies capturing ∼40.98 Mb new sequences. This pan‐genome together with high‐depth sequencing data (∼46.5×) identified 101,041 SVs, of which substantial proportions were derived from transposable element (TE) activity. Many TE‐derived SVs anchoring in a gene body or regulatory region are linked to duck's domestication and improvement. By combining quantitative genetics with molecular experiments, we, for the first time, unraveled a 6945 bp Gypsy insertion as a functional mutation of the major gene IGF2BP1 associated with duck bodyweight. This Gypsy insertion, to our knowledge, explains the largest effect on bodyweight among avian species (27.61% of phenotypic variation). In addition, we also examined another 6634 bp Gypsy insertion in MITF intron, which triggers a novel transcript of MITF, thereby contributing to the development of white plumage. Our findings highlight the importance of using a pan‐genome as a reference in genomics studies and illuminate the impact of transposons in trait formation and livestock breeding.

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