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Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens

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dc.contributor.authorLi, Jingyien
dc.contributor.authorLee, Mi-Oken
dc.contributor.authorChen, Junfengen
dc.contributor.authorDavis, Brian W.en
dc.contributor.authorDorshorst, Benjamin J.en
dc.contributor.authorSiegel, Paul B.en
dc.contributor.authorInaba, Masafumien
dc.contributor.authorJiang, Tingxinen
dc.contributor.authorChuong, Cheng-Mingen
dc.contributor.authorAndersson, Leifen
dc.date.accessioned2021-12-03T14:31:46Zen
dc.date.available2021-12-03T14:31:46Zen
dc.date.issued2021-10-12en
dc.description.abstractMelanotic (Ml) is a mutation in chickens that extends black (eumelanin) pigmentation in normally brown or red (pheomelanin) areas, thus affecting multiple within-feather patterns [J. W. Moore, J. R. Smyth Jr, J. Hered. 62, 215-219 (1971)]. In the present study, linkage mapping using a back-cross between Dark Cornish (Ml/Ml) and Partridge Plymouth Rock (ml(+)/ml(+)) chickens assigned Ml to an 820-kb region on chromosome 1. Identity-by-descent mapping, via whole-genome sequencing and diagnostic tests using a diverse set of chickens, refined the localization to the genomic region harboring GJA5 encoding gap-junction protein 5 (alias connexin 40) previously associated with pigmentation patterns in zebrafish. An insertion/deletion polymorphism located in the vicinity of the GJA5 promoter region was identified as the candidate causal mutation. Four different GJA5 transcripts were found to be expressed in feather follicles and at least two showed differential expression between genotypes. The results showed that Melanotic constitutes a cis-acting regulatory mutation affecting GJA5 expression. A recent study established the melanocortin-1 receptor (MC1R) locus and the interaction between the MC1R receptor and its antagonist agoutisignaling protein as the primary mechanism underlying variation in within-feather pigmentation patterns in chickens. The present study advances understanding the mechanisms underlying variation in plumage color in birds because it demonstrates that the activity of connexin 40/GJA5 can modulate the periodic pigmentation patterns within individual feathers.en
dc.description.notesWe thank John Thomas, Christa Honaker, Dez-Ann Sutherland, and Michelle Jambui for husbandry, sampling of chickens, and for DNA preparations; researchers and breeders who provided the DNA samples and whole-genome sequencing data used in this study; and Dr. Ping Wu for helping to produce in situ probes. The National Genomics Infra-structure (NGI) /Uppsala Genome Center and UPPMAX provided service in massive parallel sequencing and computational infrastructure. Work per-formed at NGI/Uppsala Genome Center has been funded by Council for Research Infrastructures/Swedish Research Council and Science for Life Labo-ratory, Sweden. This work was supported by Knut and Alice Wallenberg Foundation (L.A.) , Vetenskapsradet (L.A.) . C.-M.C. and T.-X.J. are funded by NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases AR60306 and AR078050. M.I. was funded by a postdoctoral fellowship from Human Frontier Science Program.en
dc.description.sponsorshipCouncil for Research Infrastructures/Swedish Research Council and Science for Life Labo-ratory, Sweden; Knut and Alice Wallenberg FoundationKnut & Alice Wallenberg Foundation; NIH National Institute of Arthritis and Musculoskeletal and Skin DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [AR60306, AR078050]; Human Frontier Science ProgramHuman Frontier Science Program; VetenskapsradetSwedish Research Councilen
dc.description.versionPublished versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.doihttps://doi.org/10.1073/pnas.2109363118en
dc.identifier.issn0027-8424en
dc.identifier.issue41en
dc.identifier.othere2109363118en
dc.identifier.pmid34607956en
dc.identifier.urihttp://hdl.handle.net/10919/106824en
dc.identifier.volume118en
dc.language.isoenen
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectmelanoticen
dc.subjectpatterningen
dc.subjectGJA5en
dc.subjectgap junction proteinen
dc.subjectIBD mappingen
dc.titleCis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickensen
dc.title.serialProceedings of the National Academy of Sciences of the United States of Americaen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten

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