Abstract:
: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.
journal_name
Pigment Cell Melanoma Resjournal_title
Pigment cell & melanoma researchauthors
Gunnarsson U,Kerje S,Bed'hom B,Sahlqvist AS,Ekwall O,Tixier-Boichard M,Kämpe O,Andersson Ldoi
10.1111/j.1755-148X.2011.00825.xsubject
Has Abstractpub_date
2011-04-01 00:00:00pages
268-74issue
2eissn
1755-1471issn
1755-148Xjournal_volume
24pub_type
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