Sex‐linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus

Pigment Cell and Melanoma Research - Tập 23 Số 4 - Trang 521-530 - 2010
Anders R. Hellström1, Elisabeth Sundström2, Ulrika Gunnarsson1, Bertrand Bed’Hom3, Michele Tixier‐Boichard3, Christa F. Honaker4, Anna‐Stina Sahlqvist5, Per Jensen6, Olle Kämpe5, Paul B. Siegel4, Susanne Kerje1, Leif Andersson2,1
1Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
2Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden
3INRA, AgroParisTech, UMR1313 Animal Genetics and Integrative Biology, Jouy‐en‐Josas, France
4Department of Animal and Poultry Sciences, Virginia Polytechnic Institute and State University, Blacksburg, VA, USA,
5Dept. of Medical Sciences, Uppsala University, Uppsala, Sweden
6IFM Biology, Division of Zoology, Linköping University, Linköping, Sweden

Tóm tắt

Summary

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.

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