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TP53 tumor suppressor gene: A model for investigating human mutagenesis
Author(s) -
Fromentel Claude Caron De,
Soussi Thierry
Publication year - 1992
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870040102
Subject(s) - mutagenesis , biology , gene , genetics , point mutation , tumor suppressor gene , cpg site , genome , mutation , computational biology , carcinogenesis , gene expression , dna methylation
More than 350 independent point mutations of the TP53 gene, found in a wide variety of human cancers, were compiled and analysed. From this study, we confirm the presence of four hot‐spot regions which colocalize with some highly conserved domains of the protein. We also define a new hot‐spot region which is observed predominantly in lung tumors. Analysis of the mutational events suggests the direct involvement of environmental carcinogens in lung tumors and hepatocarcinomas, and spontaneous mutagenesis generating essentially CpG transitions in most of the remaining ones. Furthermore, we demonstrate in this work that the TP53 gene is an informative model with which to study the molecular mechanisms of mutagenesis in the human genome.