title: Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus.
abstract: 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.
authors.affiliation: Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
authors.forename: Anders R
authors.initials: AR
authors.lastname: Hellström
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Sundström
authors.forename: Ulrika
authors.initials: U
authors.lastname: Gunnarsson
authors.forename: Bertrand
authors.initials: B
authors.lastname: Bed'Hom
authors.forename: Michele
authors.initials: M
authors.lastname: Tixier-Boichard
authors.forename: Christa F
authors.initials: CF
authors.lastname: Honaker
authors.forename: Anna-Stina
authors.initials: AS
authors.lastname: Sahlqvist
authors.forename: Per
authors.initials: P
authors.lastname: Jensen
authors.forename: Olle
authors.initials: O
authors.lastname: Kämpe
authors.forename: Paul B
authors.initials: PB
authors.lastname: Siegel
authors.forename: Susanne
authors.initials: S
authors.lastname: Kerje
authors.forename: Leif
authors.initials: L
authors.lastname: Andersson
mesh_terms: 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
chemical_list: D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16