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The Crest Phenotype in Chicken Is Associated with Ectopic Expression of HOXC8 in Cranial Skin
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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2012 (English)In: PLoS ONE, ISSN 1932-6203, Vol. 7, no 4, e34012- p.Article in journal (Refereed) Published
Abstract [en]

The Crest phenotype is characterised by a tuft of elongated feathers atop the head. A similar phenotype is also seen in several wild bird species. Crest shows an autosomal incompletely dominant mode of inheritance and is associated with cerebral hernia. Here we show, using linkage analysis and genome-wide association, that Crest is located on the E22C19W28 linkage group and that it shows complete association to the HOXC-cluster on this chromosome. Expression analysis of tissues from Crested and non-crested chickens, representing 26 different breeds, revealed that HOXC8, but not HOXC12 or HOXC13, showed ectopic expression in cranial skin during embryonic development. We propose that Crest is caused by a cis-acting regulatory mutation underlying the ectopic expression of HOXC8. However, the identification of the causative mutation(s) has to await until a method becomes available for assembling this chromosomal region. Crest is unfortunately located in a genomic region that has so far defied all attempts to establish a contiguous sequence.

Place, publisher, year, edition, pages
2012. Vol. 7, no 4, e34012- p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-177634DOI: 10.1371/journal.pone.0034012ISI: 000305341600018OAI: diva2:541388
Available from: 2012-07-17 Created: 2012-07-17 Last updated: 2012-07-17Bibliographically approved

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Imsland, FreyjaAndersson, Leif
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