Li-Fraumeni syndrome: a p53 family affair.
The p53 alterations frequently found in human tumors are missense mutations in the DNA binding domain. These p53 mutations have been shown to have gain-of-function or dominant-negative properties in multiple experiments. The consequences of these p53 mutations at physiological levels on the development of a tumor were unclear. Using mouse models, three recent papers have shed light on the mechanisms of mutant p53 and its family members, p63 and p73, in tumorigenesis. Interestingly, the p53 point mutant mice had a similar phenotype to p53 family compound mutant mice suggesting that there is an interplay between the p53 family members in tumorigenesis and Li-Fraumeni syndrome.
Iwakuma
Tomoo
T
Department of Molecular Genetics, M.D. Anderson Cancer Center, University of Texas Graduate School of Biomedical Sciences, Houston, Texas 77030, USA.
Lozano
Guillermina
G
Flores
Elsa R
ER
D000818:Animals; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000378:metabolism*; D008954:Models, Biological; D005810:Multigene Family; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism*
D016159:Tumor Suppressor Protein p53