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Molecular analysis of mutations in mutator colorectal carcinoma cell lines

Molecular analysis of mutations in mutator colorectal carcinoma cell lines,10.1093/hmg/4.11.2057,Human Molecular Genetics,Nitai P. Bhattacharyya,Anil

Molecular analysis of mutations in mutator colorectal carcinoma cell lines   (Citations: 45)
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Journal: Human Molecular Genetics - HUM MOL GENET , vol. 4, no. 11, pp. 2057-2064, 1995
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    • ... To date, 659 MLH1 (44% of all identified MMR gene variations), 595 MSH2 (39%), 216 MSH6 (14%) and 45 PMS2 (3%) germline variations have been reported in the database (...

    J Kantelinenet al. MutSβ exceeds MutSα in dinucleotide loop repair

    • ...Since the majority of HPRT mutations in these hMSH6-deficient cells are base substitutions—with a relatively minor contribution from frameshifts (5, 34)—these data are consistent with hMTH1 preventing base substitutions in human HPRT as it does in its mouse counterpart...
    • ...Loss of the hMLH1 (but also of hPMS2 or hMSH2) MMR proteins in human tumor cell lines leads to an accumulation of G frameshifts in the G6 target sequence of the HPRT gene (5, 39, 22)...

    Maria Teresa Russoet al. The Oxidized Deoxynucleoside Triphosphate Pool Is a Significant Contri...

    • ...DLD-1 and HCT-116 cells are deficient in mismatch repair activity and display microsatellite instability (MSI) and a high spontaneous mutation rate at coding sequences (11, 16, 17)...
    • ...The amplified HPRT fragment does not contain NlaIII sites, however we observed that a low-level mutation generating an NlaIII site (C3 T missense mutation, C39838T, in codon 508 of the HPRT gene exon 7, in GenBank sequence no. M26434) was previously reported in DLD-1 mismatch repair-deficient cells (17, 21)...
    • ...To examine whether single-gene iFLP can detect random, low-level mutations generated at the HPRT gene by genomic instability, the mismatch repair-deficient cell line DLD-1 was cultured for 32 generations so that development of previously reported base changes in HPRT can be anticipated, including an NlaIII-forming mutation at codon 508 (17, 21)...
    • ...From the data of Bhattacharyya et al. (17), an expected mutation rate of 0.27 105 mutations/cell/generation is inferred, because codon 508 mutation makes up about 16% of an overall reported HPRT mutation rate of 1.51–1.9 105 for DLD-1 (17, 18)...
    • ...From the data of Bhattacharyya et al. (17), an expected mutation rate of 0.27 105 mutations/cell/generation is inferred, because codon 508 mutation makes up about 16% of an overall reported HPRT mutation rate of 1.51–1.9 105 for DLD-1 (17, 18)...
    • ...Bhattacharyya et al. (17) observed a similar relation among MFs in DLD-1 (MF4 103) and HCT-116 (MF 6 104) and found distinct mutation spectra among the two cell lines by using the HPRT phenotypic assay...
    • ...Therefore the iFLP data indicate that the genomic instability previously observed in HPRT is indicative of “global instability” occurring throughout the DLD-1 and HCT-116 genomes, as hypothesized (11, 12, 17), and that widespread, low-level mutations underline the presence of a mutator phenotype in these cell lines...

    Wei-Hua Liuet al. Inverse PCR-Based RFLP Scanning Identifies Low-Level Mutation Signatur...

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