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Abstract

P>The Dark brown (DB) mutation in chickens reduces expression of black eumelanin and enhances expression of red pheomelanin, but only in certain parts of the plumage. Here, we present genetic evidence that an 8.3-kb deletion upstream of the SOX10 transcription start site is the causal mutation underlying the DB phenotype. The SOX10 transcription factor has a well-established role in melanocyte biology and is essential for melanocyte migration and survival. Previous studies have demonstrated that the mouse homolog of a highly conserved element within the deleted region is a SOX10 enhancer. The mechanism of action of this mutation remains to be established, but one possible scenario is that the deletion leads to reduced SOX10 expression which in turn down-regulates expression of key enzymes in pigment synthesis such as tyrosinase. Lower tyrosinase activity leads to a shift toward a more pheomelanistic (reddish) plumage color, which is the characteristic feature of the DB phenotype.

Keywords

chicken; plumage color; SOX10; regulatory mutation; deletion

Published in

Pigment Cell and Melanoma Research
2011, volume: 24, number: 2, pages: 268-274
Publisher: WILEY-BLACKWELL

SLU Authors

UKÄ Subject classification

Medical Bioscience

Publication identifier

  • DOI: https://doi.org/10.1111/j.1755-148X.2011.00825.x

Permanent link to this page (URI)

https://res.slu.se/id/publ/47074