| First Author | McGowan KA | Year | 2008 |
| Journal | Nat Genet | Volume | 40 |
| Issue | 8 | Pages | 963-70 |
| PubMed ID | 18641651 | Mgi Jnum | J:139244 |
| Mgi Id | MGI:3807606 | Doi | 10.1038/ng.188 |
| Citation | McGowan KA, et al. (2008) Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 40(8):963-70 |
| abstractText | 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. |
