Human Gene Set: MCGOWAN_RSP6_TARGETS_UP

For the Mouse gene set with the same name, see MCGOWAN_RSP6_TARGETS_UP

Standard name MCGOWAN_RSP6_TARGETS_UP
Systematic name M1780
Brief description Genes up-regulated by hemizygotic cre-lox knockout of RSP6 [GeneID=81492] in keratinocytes.
Full description or 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.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18641651   Authors: McGowan KA,Li JZ,Park CY,Beaudry V,Tabor HK,Sabnis AJ,Zhang W,Fuchs H,de Angelis MH,Myers RM,Attardi LD,Barsh GS
Exact source Table 1S
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Source species Mus musculus
Contributed by Jessica Robertson (MSigDB Team)
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identifier namespace		 MOUSE_GENE_SYMBOL
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Version history 3.1: First introduced

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