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Nature Genetics 40, 931 - 932 (2008)
doi:10.1038/ng0808-931
Dark skin mutations shed light on inherited anemia
Philip J Mason1 & Monica Bessler1
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Philip J. Mason is in the Departments of Internal Medicine and Genetics, and Monica Bessler is in the Departments of Internal Medicine and Developmental Biology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
e-mail: pmason@dom.wustl.edu
Abstract
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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RESEARCH
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effectsNature Genetics Article (01 Aug 2008)
Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 inductionNature Cell Biology Letter (01 Apr 2009)
