Mutations of GTBP in genetically unstable cells

Nickolas Papadopoulos, Nicholas C. Nicolaides, Bo Liu, Ramon Parsons, Christoph Lengauer, Fabio Palombo, Antonello D'Arrigo, Sanford Markowitz, James K V Willson, Kenneth W. Kinzler, Josef Jiricny, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

475 Scopus citations


The molecular defects responsible for tumor cell hypermutability in humans have not yet been fully identified. Here the gene encoding a G/T mismatch-binding protein (GTBP) was localized to within 1 megabase of the related hMSH2 gene on chromosome 2 and was found to be inactivated in three hypermutable cell lines. Unlike cells defective in other mismatch repair genes, which display widespread alterations in mononucleotide, dinucleotide, and other simple repeated sequences, the GTBP-deficient cells showed alter-ations primarily in mononucleotide tracts. These results suggest that GTBP is important for maintaining the integrity of the human genome and document molecular defects accounting for variation in mutator phenotype.

Original languageEnglish (US)
Pages (from-to)1915-1917
Number of pages3
Issue number5219
StatePublished - 1995

ASJC Scopus subject areas

  • General


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