Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus.
Sex-linked barring, a common plumage colour found in chickens, is characterized by black and white barred feathers. Previous studies have indicated that the white bands are caused by an absence of melanocytes in the feather follicle during the growth of this region. Here, we show that Sex-linked barring is controlled by the CDKN2A/B locus, which encodes the INK4b and ARF transcripts. We identified two non-coding mutations in CDKN2A that showed near complete association with the phenotype. In addition, two missense mutations were identified at highly conserved sites, V9D and R10C, and every bird tested with a confirmed Sex-linked barring phenotype carried one of these missense mutations. Further work is required to determine if one of these or a combined effect of two or more CDKN2A mutations is causing Sex-linked barring. This novel finding provides the first evidence that the tumour suppressor locus CDKN2A/B can affect pigmentation phenotypes and sheds new light on the functional significance of this gene.
Hellström
Anders R
AR
Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Sundström
Elisabeth
E
Gunnarsson
Ulrika
U
Bed'Hom
Bertrand
B
Tixier-Boichard
Michele
M
Honaker
Christa F
CF
Sahlqvist
Anna-Stina
AS
Jensen
Per
P
Kämpe
Olle
O
Siegel
Paul B
PB
Kerje
Susanne
S
Andersson
Leif
L
D000818:Animals; D002645:Chickens / Q000235:genetics* / Q000502:physiology; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D008297:Male; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D012727:Sex Characteristics
D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16