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

Li, Jingyi and Lee, Mi-Ok and Chen, Junfeng and Davis, Brian W. and Dorshorst, Benjamin J. and Siegel, Paul B. and Inaba, Masafumi and Jiang, Ting-Xin and Chuong, Cheng-Ming and Andersson, Leif (2021). Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens. Proceedings of the National Academy of Sciences of the United States of America. 118 , e2109363118
[Research article]

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Abstract

Melanotic (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.

Authors/Creators:Li, Jingyi and Lee, Mi-Ok and Chen, Junfeng and Davis, Brian W. and Dorshorst, Benjamin J. and Siegel, Paul B. and Inaba, Masafumi and Jiang, Ting-Xin and Chuong, Cheng-Ming and Andersson, Leif
Title:Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens
Series Name/Journal:Proceedings of the National Academy of Sciences of the United States of America
Year of publishing :2021
Volume:118
Article number:e2109363118
Number of Pages:9
Publisher:NATL ACAD SCIENCES
ISSN:0027-8424
Language:English
Publication Type:Research article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 402 Animal and Dairy Science > Animal and Dairy Science.
Keywords:melanotic, patterning, GJA5, gap junction protein, IBD mapping
URN:NBN:urn:nbn:se:slu:epsilon-p-114161
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-114161
Additional ID:
Type of IDID
DOI10.1073/pnas.2109363118
Web of Science (WoS)000707948500008
ID Code:25987
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:29 Oct 2021 10:25
Metadata Last Modified:29 Oct 2021 10:31

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