Evidence map›Paper›PMID 42437876›Full record

ArticleGenetics, selection, evolution : GSE2026

A regulatory 24-bp insertion at the BCO2 gene region is associated with yellow skin in chickens.

Li Rong, Xueying Wu, Jiao Li, Yuting Zhou, Tong Yu, Jiuhong Nan, Liubin Yang, Xuefeng Wang, Yanping Feng, Shijun Li

Abstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Li RongHubei Hongshan Laboratory, Wuhan, 430070, China.
Xueying WuKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Jiao LiKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Yuting ZhouKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Tong YuKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Jiuhong NanThe Second Affiliated Hospital & Liangzhu Laboratory, Zhejiang University School of Medicine, Hangzhou, 311121, China.
Liubin YangKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Xuefeng WangKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China.
Yanping FengKey Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan, 430070, China. fengyanping594@mail.hzau.edu.cn.
Shijun LiHubei Hongshan Laboratory, Wuhan, 430070, China. lishijun@mail.hzau.edu.cn.ORCID http://orcid.org/0000-0001-9728-7949

Funding

National Natural Science Foundation of China 32372865the Major Program(JD) of Hubei Province 2023BAA029the Major Project of Hubei Hongshan Laboratory 2022hszd006
6 · The paper itself

Abstract

backgroundChicken skin colour is an economically important trait influenced by consumer preferences across different markets. Previous studies established that white skin is dominant over yellow skin, with the β, β-carotene-9',10'-dioxygenase (BCO2) identified as the candidate gene. However, the precise causal mutation within this gene region has remained unidentified for over a decade, limiting the development of reliable molecular markers for breeding programs.

resultsThrough genome-wide association analysis of 381 chickens, we confirmed that the BCO2 gene region on chromosome 24 was the major locus associated with skin colour. Transcriptome analysis revealed approximately 590-fold higher BCO2 expression in white-skinned than yellow-skinned chickens. By integrating whole-genome sequencing data from 63 individuals with high-quality genome assemblies, we identified a 24-bp insertion that showed near-complete co-segregation with the yellow skin phenotype in a backcross family of 180 individuals. Electrophoretic mobility shift assays revealed an insertion-dependent DNA-protein interaction, and DNA pull-down coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) prioritised lymphoid enhancer-binding factor 1 (LEF1) as a leading candidate interactor. Chromatin profiling revealed elevated trimethylation of histone H3 at lysine 27 (H3K27me3) and reduced chromatin accessibility at the gene locus in yellow-skinned chickens. Functional experiments revealed that knockdown of LEF1 or inhibition of enhancer of zeste homologue 2 (EZH2) significantly increased BCO2 expression, supporting a model in which the insertion is associated with LEF1/EZH2-sensitive, polycomb repressive complex 2 (PRC2)-linked repression and transcriptional silencing.

conclusionThe 24-bp insertion in the BCO2 regulatory region is a candidate causal variant for yellow skin in chickens, refining the genetic model of chicken skin colour variation and supporting a LEF1-PRC2-associated regulatory mechanism potentially involved in avian carotenoid metabolism. This finding enables the development of a reliable PCR-based diagnostic marker for skin colour, facilitating marker-assisted selection in poultry breeding and providing new insights into the genetic regulation of avian pigmentation.

Indexed as

ChickensDioxygenasesSkin PigmentationAnimalsFemaleGenome-Wide Association StudyMutagenesis, InsertionalPhenotypeDioxygenases

Identifiers

PMID42437876
PMCPMC13491742

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.