TY - JOUR
T1 - Mutations of GTBP in genetically unstable cells
AU - Papadopoulos, Nickolas
AU - Nicolaides, Nicholas C.
AU - Liu, Bo
AU - Parsons, Ramon
AU - Lengauer, Christoph
AU - Palombo, Fabio
AU - D'Arrigo, Antonello
AU - Markowitz, Sanford
AU - Willson, James K V
AU - Kinzler, Kenneth W.
AU - Jiricny, Josef
AU - Vogelstein, Bert
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1126/science.7604266
DO - 10.1126/science.7604266
M3 - Article
C2 - 7604266
AN - SCOPUS:0029069972
SN - 0036-8075
VL - 268
SP - 1915
EP - 1917
JO - Science
JF - Science
IS - 5219
ER -