GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001069
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Gallus gallus
Trait State in Taxon B
Gallus gallus - Dark Brown mutants
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Gallus gallus - Dark Brown mutants
GENOTYPIC CHANGE
Generic Gene Name
Sox10
Synonyms
gt; Dom; Sox21; Sox-10
Sequence Similarities
-
GO - Biological Process
GO:0007417 : central nervous system development ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
1-10 kb
Molecular Details of the Mutation
8.3kb deletion upstream of the SOX10 transcription start site
Experimental Evidence
Authors
Gunnarsson U; Kerje S; Bed'hom B; Sahlqvist AS; Ekwall O; Tixier-Boichard M; Kämpe O; Andersson L
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.

© 2011 John Wiley & Sons A/S.
Additional References
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