Article
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Nature genetics - 1 Aug 2008
McGowan Kelly A, Li Jun Z, Park Christopher Y, Beaudry Veronica, Tabor Holly K, Sabnis Amit J, Zhang Weibin, Fuchs Helmut, de Angelis Martin Hrabé, Myers Richard M, Attardi Laura D, Barsh Gregory S
Abstract excerpt
Mutations in genes encoding ribosomal proteins cause the Minute phenotype in Drosophila and mice, and Diamond-Blackfan syndrome in humans. Here we report two mouse dark skin (Dsk) loci caused by mutations in Rps19 (ribosomal protein S19) and Rps20 (ribosomal protein S20). We identify a common pathophysiologic program in which p53 stabilization stimulates Kit ligand expression, and, consequently, epidermal...
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