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 accessAbstract
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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“Finally, activation of p53 in keratinocytes in response to ribosome dysfunction or ultraviolet light promotes pigmentation and protective suntanning responses, respectively, in mice (Cui et al., 2007; McGowan et al., 2008).”
From p53 at a glance (2010) · cites this paper as McGowan et al., 2008
In the citing paper
“In mouse models of Diamond Blackfan anemia, Treacher Collins syndrome craniofacial abnormalities and 5q syndrome macrocytic anemia, p53 activity is induced in response to mutations that cause ribosome dysfunction, precipitating either apoptotic or cell-cycle-arrest responses that result in the manifestations of the disease (Barlow et al., 2010; Jones et al., 2008; McGowan et al., 2008).”
From p53 at a glance (2010) · cites this paper as McGowan et al., 2008
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Cites
Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age
Rossi, D. J., Bryder, D., Seita, J., Nussenzweig, A., Hoeijmakers, J., & Weissman, I. L. (2007) · Nature · doi:10.1038/nature05862 · Cited by 1,115
Central role of p53 in the suntan response and pathologic hyperpigmentation
Cui, R., Widlund, H. R., Feige, E., Lin, J. Y., Wilensky, D. L., Igras, V. E., D'Orazio, J., Fung, C. Y., Schanbacher, C. F., Granter, S. R., et al. (2007) · Cell · doi:10.1016/j.cell.2006.12.045 · Cited by 657
Cited by
Boulon, S., Westman, B. J., Hutten, S., Boisvert, F.-M., & Lamond, A. I. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.024 · Cited by 1,103
Vousden, K. H., & Ryan, K. M. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2715 · Cited by 959
Analysis of a genome-wide set of gene deletions in the fission yeast Schizosaccharomyces pombe
Kim, D.-U., Hayles, J., Kim, D., Wood, V., Park, H.-O., Won, M., Yoo, H.-S., Duhig, T., Nam, M., Palmer, G., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt.1628 · Cited by 742
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Self-citationSignaling to p53: ribosomal proteins find their way
Zhang, Y., & Lu, H. (2009) · Cancer Cell · doi:10.1016/j.ccr.2009.09.024 · Cited by 591
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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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.