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Population genomic analysis identifies the complex structural variation at the fibromelanosis (FM) locus in chicken
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.ORCID iD: 0000-0002-9289-9791
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology, Genetics and Genomics. Texas A&M Univ, Dept Vet Integrat Biosci, College Stn, TX 77840 USA..ORCID iD: 0000-0002-4085-6968
2025 (English)In: Scientific Reports, E-ISSN 2045-2322, Vol. 15, no 1, article id 9239Article in journal (Refereed) Published
Abstract [en]

Phenotypic diversity and its genetic basis are central questions in biology, with domesticated animals offering valuable insights due to their rapid evolution the last 10,000 years. In chickens, fibromelanosis (FM) is a striking pigmentation phenotype characterized by hyperpigmentation. A previous study identified a complex structural variant involving both two large duplications (127.4 and 170.5 kb in size) and inversions associated with upregulated expression of the Endothelin 3 (EDN3) gene. However, the detailed organization of the structural arrangements have remained unclear. In this study, we conducted a comprehensive genomic survey of 517 FM chickens representing 44 different populations. Our results elucidate the complex arrangement of the duplications and inversions at the FM locus based on the large-scale genomic survey, population level genotyping, and linkage disequilibrium analysis, providing conclusive support for one specific configuration of the two large duplications, resolving a controversy that has been unresolved for more than a decade. Our results show that the birth of this complex structural variant must have involved an interchromosomal rearrangement creating fixed heterozygosity due to sequence differences between the two copies of the 127.4 kb duplication. This study shows how population genomics can be used to understand complex structural variations that underlie phenotypic variation.

Place, publisher, year, edition, pages
Springer Nature, 2025. Vol. 15, no 1, article id 9239
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Genetics and Genomics Medical Genetics and Genomics
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URN: urn:nbn:se:uu:diva-553840DOI: 10.1038/s41598-025-94250-4ISI: 001447350000017PubMedID: 40102581Scopus ID: 2-s2.0-105000455514OAI: oai:DiVA.org:uu-553840DiVA, id: diva2:1949848
Available from: 2025-04-03 Created: 2025-04-03 Last updated: 2025-04-03Bibliographically approved

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