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Cited by 364

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

Open access
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·2008·Nature Genetics

Abstract

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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Metadata

Authors
McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R. M., Attardi, L. D., & Barsh, G. S.
Venue
Nature Genetics
Published
2008-07-20
Volume
40
Issue
8
Pages
963-970
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2101221243
Cited by
364
References
2
FWCI
16.03
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. https://app.cochat.ai/papers/10.1038/ng.188
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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., de Angelis, M. H., Myers, R. M., Attardi, L. D., & Barsh, G. S. (2008). Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nature Genetics. https://doi.org/10.1038/ng.188

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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