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Publication : Mutations of GTBP in genetically unstable cells.

First Author  Papadopoulos N Year  1995
Journal  Science Volume  268
Issue  5219 Pages  1915-7
PubMed ID  7604266 Mgi Jnum  J:43884
Mgi Id  MGI:1203969 Doi  10.1126/science.7604266
Citation  Papadopoulos N, et al. (1995) Mutations of GTBP in genetically unstable cells [see comments]. Science 268(5219):1915-7
abstractText  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 alterations 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.
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