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Dark skin mutations shed light on inherited anemia

A new study of pigmentation in mice has revealed a surprising link between dark skin and defects in ribosomal proteins. The demonstration that this phenotype is mediated via cell-specific stabilization of p53 suggests insights into the pathogenesis of human diseases such as Diamond-Blackfan anemia caused by similar defects in ribosomal proteins.

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Figure 1: Mutations in ribosomal protein genes cause dark skin in mice via stabilization of p53.

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Mason, P., Bessler, M. Dark skin mutations shed light on inherited anemia. Nat Genet 40, 931–932 (2008). https://doi.org/10.1038/ng0808-931

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