RGD Reference Report - Mutations of GTBP in genetically unstable cells. - Rat Genome Database

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Mutations of GTBP in genetically unstable cells.

Authors: Papadopoulos, N  Nicolaides, NC  Liu, B  Parsons, R  Lengauer, C  Palombo, F  D'Arrigo, A  Markowitz, S  Willson, JK  Kinzler, KW 
Citation: Papadopoulos N, etal., Science. 1995 Jun 30;268(5219):1915-7.
RGD ID: 1600460
Pubmed: PMID:7604266   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Lynch syndrome  IAGP 1600460HNPCC5 and DNA:deletion:exon:L222XRGD 
Lynch syndrome  ISOMSH6 (Homo sapiens)1600460HNPCC5 and DNA:deletion:exon:L222XRGD 

Objects Annotated

Genes (Mus musculus)
Msh6  (mutS homolog 6)

Genes (Homo sapiens)
MSH6  (mutS homolog 6)


Additional Information