Li, Jingyi and Lee, Mi-Ok and Davis, Brian W. and Wu, Ping and Li, Shu-Man Hsieh and Chuong, Cheng-Ming and Andersson, Leif
(2021).
The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10.
G3. 11
, jkaa048
[Research article]
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Abstract
The Crest mutation in chicken shows incomplete dominance and causes a spectacular phenotype in which the small feathers normally present on the head are replaced by much larger feathers normally present only in dorsal skin. Using whole-genome sequencing, we show that the crest phenotype is caused by a 197 bp duplication of an evolutionarily conserved sequence located in the intron of HOXC10 on chromosome 33. A diagnostic test showed that the duplication was present in all 54 crested chickens representing eight breeds and absent from all 433 non-crested chickens representing 214 populations. The mutation causes ectopic expression of at least five closely linked HOXC genes, including HOXC10, in cranial skin of crested chickens. The result is consistent with the interpretation that the crest feathers are caused by an altered body region identity. The upregulated HOXC gene expression is expanded to skull tissue of Polish chickens showing a large crest often associated with cerebral hernia, but not in Silkie chickens characterized by a small crest, both homozygous for the duplication. Thus, the 197 bp duplication is required for the development of a large crest and susceptibility to cerebral hernia because only crested chicken show this malformation. However, this mutation is not sufficient to cause herniation because this malformation is not present in breeds with a small crest, like Silkie chickens.
Authors/Creators: | Li, Jingyi and Lee, Mi-Ok and Davis, Brian W. and Wu, Ping and Li, Shu-Man Hsieh and Chuong, Cheng-Ming and Andersson, Leif | ||||||
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Title: | The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10 | ||||||
Series Name/Journal: | G3 | ||||||
Year of publishing : | 2021 | ||||||
Volume: | 11 | ||||||
Article number: | jkaa048 | ||||||
Number of Pages: | 10 | ||||||
Publisher: | OXFORD UNIV PRESS INC | ||||||
ISSN: | 2160-1836 | ||||||
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: | crest, skin regional specificity, cerebral hernia, IBD mapping, HOXC gene cluster | ||||||
URN:NBN: | urn:nbn:se:slu:epsilon-p-112273 | ||||||
Permanent URL: | http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-112273 | ||||||
Additional ID: |
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ID Code: | 24555 | ||||||
Faculty: | VH - Faculty of Veterinary Medicine and Animal Science | ||||||
Department: | (VH) > Dept. of Animal Breeding and Genetics | ||||||
Deposited By: | SLUpub Connector | ||||||
Deposited On: | 17 Jun 2021 10:03 | ||||||
Metadata Last Modified: | 17 Jun 2021 10:11 |
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