Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney
2000
The OGG1 gene, which codes for a DNA repair protein with
antimutator activity, is located on chromosome 3p25, a frequent site of
allelic deletions in many types of human tumors, including renal clear
cell cancers. We present the analysis of 99 renal tumors for
alterations in the OGG1 gene to determine its
association with tumorigenesis. Loss of heterozygosity in the 3p25
region was found for 85% of the informative cases. We detected somatic
missense mutations of the OGG1 gene in 4 of the 99 tumor
samples. Biochemical analysis of the mutant proteins revealed that a
substitution at codon 46 impairs the enzymatic activity. We also
describe the occurrence of several polymorphisms as well as aberrantly
spliced OGG1 transcripts.
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