Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

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 pathop...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3979291/
https://ncbi.nlm.nih.gov/pubmed/18641651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.188
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