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McGowan, K.A. ; Li, J.Z. ; Park, C.Y. ; Beaudry, V. ; Tabor, H.K. ; Sabnis, A.J. ; Zhang, W. ; Fuchs, H. ; Hrabě de Angelis, M. ; Myers, R.M. ; Attardi, L.D. ; Barsh, G.S.

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

Nat. Genet. 40, 963-970 (2008)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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 melanocytosis via a paracrine mechanism. Accumulation of p53 also causes reduced body size and erythrocyte count. These results provide a mechanistic explanation for the diverse collection of phenotypes that accompany reduced dosage of genes encoding ribosomal proteins, and have implications for understanding normal human variation and human disease.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Zeitschrift Nature Genetics
Quellenangaben Band: 40, Heft: 8, Seiten: 963-970 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)