title: p53: out of Africa.
abstract: Somatic mutations in the tumor suppressor gene p53 occur in more than half of all human cancers. Rare germline mutations result in the Li-Fraumeni cancer family syndrome. In this issue ofGenes&Development, Jennis and colleagues (pp. 918-930) use an elegant mouse model to examine the affect of a polymorphism, P47S (rs1800371), in the N terminus of p53 that is found in Africans as well as more than a million African Americans. Remarkably, the single nucleotide change causes the mice to be substantially tumor-prone compared with littermates, suggesting that this allele causes an increased risk of developing cancer. The defect in p53 function is traced to a restriction in downstream gene regulation that reduces cell death in response to stress.
authors.affiliation: p53 Laboratory, A*Star Singapore, Singapore 138648.
authors.forename: David
authors.initials: D
authors.lastname: Lane
mesh_terms: D000349:Africa; D000818:Animals; D044383:Black People / Q000235:genetics; D004195:Disease Models, Animal; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D051379:Mice; D009154:Mutation; D011485:Protein Binding; D001741:Black or African American
keywords: Ser46 phosphorylation; ferroptosis; metabolism; p53; polymorphism; tumor suppression