Wang, Kejun, Hua, Guoying, Li, Jingyi, Yang, Yu, Zhang, Chenxi, Yang, Lan, Hu, Xiaoyu, Scheben, Armin, Wu, Yanan, Gong, Ping, Zhang, Shuangjie, Fan, Yanfeng, Zeng, Tao, Lu, Lizhi, Gong, Yanzhang, Jiang, Ruirui, Sun, Guirong, Tian, Yadong, Kang, Xiangtao, Hu, Haifei, Li, Wenting (December 2023) Duck pan-genome reveals two transposon insertions caused bodyweight enlarging and white plumage phenotype formation during evolution. iMeta, 3 (1). e154. ISSN 2770-5986 (Public Dataset)
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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.
| Item Type: | Paper |
|---|---|
| Subjects: | bioinformatics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > transposons |
| CSHL Authors: | |
| Communities: | CSHL labs > Siepel lab |
| SWORD Depositor: | CSHL Elements |
| Depositing User: | CSHL Elements |
| Date: | 17 December 2023 |
| Date Deposited: | 17 Jun 2024 12:56 |
| Last Modified: | 17 Jun 2024 12:56 |
| PMCID: | PMC10989122 |
| Related URLs: | |
| Dataset ID: |
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| URI: | https://repository.cshl.edu/id/eprint/41582 |
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