Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens

Fuente: Wiley Open Access
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Autores principales: Lihong Gu, Chen Peng, Anhong Chen, Kaiyu Chen, Xinli Zheng, Dongyou Yu, Zhengguang Wang, Lingzhao Fang, George E. Liu, Pengju Zhao
Formato: Artículo Open Access
Publicado: Wiley 2025
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author Lihong Gu
Chen Peng
Anhong Chen
Kaiyu Chen
Xinli Zheng
Dongyou Yu
Zhengguang Wang
Lingzhao Fang
George E. Liu
Pengju Zhao
author_facet Lihong Gu
Chen Peng
Anhong Chen
Kaiyu Chen
Xinli Zheng
Dongyou Yu
Zhengguang Wang
Lingzhao Fang
George E. Liu
Pengju Zhao
Lihong Gu
Chen Peng
Anhong Chen
Kaiyu Chen
Xinli Zheng
Dongyou Yu
Zhengguang Wang
Lingzhao Fang
George E. Liu
Pengju Zhao
collection Wiley Open Access
contents Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens Lihong Gu Chen Peng Anhong Chen Kaiyu Chen Xinli Zheng Dongyou Yu Zhengguang Wang Lingzhao Fang George E. Liu Pengju Zhao iMetaOmics AbstractStructural variation (SV) refers to a wide range of genetic variations that significantly affect genome biology and complex phenotypes. However, the population‐level SV landscape and its functional impacts on chickens are largely unknown. Here, we generated haplotype‐resolved genome assemblies for the Chinese Wenchang chicken and then integrated them with another 29 assemblies and 354 genome resequencing data to construct a pan‐genome graph for SV genotyping. We detected 185,205 high‐confidence SVs and found that one‐third of them were derived from homology‐based and transposable element (TE) insertion‐based mutational mechanisms. By examining the ChickenGTEx resource, we discovered 1728 SVs associated with molecular phenotypes (e.g., gene expression and alternative splicing), including a 2.7‐kb insertion in the exon of the EEF1A2 gene related to egg‐laying rates, which showed a significant difference in frequency between broilers and layers. Additionally, we identified a lncRNA gene with a Variable Number of Tandem Repeats (VNTR)‐mediated SV influencing white feathers in Wenchang chicken due to gene flow from white layers. Overall, our study provides a valuable resource for chicken genetics and genomics and sheds light on the SV landscape in chickens as well as its potential contributions to genome structure, gene regulation, and complex traits. 10.1002/imo2.70027 http://creativecommons.org/licenses/by/4.0/
doi_str_mv 10.1002/imo2.70027
format Artículo Open Access
id wiley_oa_10_1002_imo2_70027
institution Wiley Open Access
license_str_mv http://creativecommons.org/licenses/by/4.0/
publishDate 2025
publisher Wiley
record_format wiley_oa
spellingShingle Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens
Lihong Gu
Chen Peng
Anhong Chen
Kaiyu Chen
Xinli Zheng
Dongyou Yu
Zhengguang Wang
Lingzhao Fang
George E. Liu
Pengju Zhao
iMetaOmics
Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens Lihong Gu Chen Peng Anhong Chen Kaiyu Chen Xinli Zheng Dongyou Yu Zhengguang Wang Lingzhao Fang George E. Liu Pengju Zhao iMetaOmics AbstractStructural variation (SV) refers to a wide range of genetic variations that significantly affect genome biology and complex phenotypes. However, the population‐level SV landscape and its functional impacts on chickens are largely unknown. Here, we generated haplotype‐resolved genome assemblies for the Chinese Wenchang chicken and then integrated them with another 29 assemblies and 354 genome resequencing data to construct a pan‐genome graph for SV genotyping. We detected 185,205 high‐confidence SVs and found that one‐third of them were derived from homology‐based and transposable element (TE) insertion‐based mutational mechanisms. By examining the ChickenGTEx resource, we discovered 1728 SVs associated with molecular phenotypes (e.g., gene expression and alternative splicing), including a 2.7‐kb insertion in the exon of the EEF1A2 gene related to egg‐laying rates, which showed a significant difference in frequency between broilers and layers. Additionally, we identified a lncRNA gene with a Variable Number of Tandem Repeats (VNTR)‐mediated SV influencing white feathers in Wenchang chicken due to gene flow from white layers. Overall, our study provides a valuable resource for chicken genetics and genomics and sheds light on the SV landscape in chickens as well as its potential contributions to genome structure, gene regulation, and complex traits. 10.1002/imo2.70027 http://creativecommons.org/licenses/by/4.0/
title Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens
topic iMetaOmics
url https://onlinelibrary.wiley.com/doi/10.1002/imo2.70027