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The Dark brown plumage color in chickens is caused by an 8.3 kb deletion upstream of SOX10.

Journal article
Authors Ulrika Gunnarsson
Susanne Kerje
Bertrand Bed'hom
Anna-Stina Sahlqvist
Olov Ekwall
Michele Tixier-Boichard
Olle Kämpe
Leif Andersson
Published in Pigment cell & melanoma research
ISSN 1755-148X
Publication year 2011
Published at Institute of Medicine, Department of Rheumatology and Inflammation Research
Language en
Links dx.doi.org/10.1111/j.1755-148X.2011...
Subject categories Functional genomics, Dermatology and Venereal Diseases

Abstract

The Dark brown 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 Dark brown 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 towards a more pheomelanistic (reddish) plumage color, which is the characteristic feature of the Dark brown phenotype.

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