Structure of the Human MSH2 Locus and Analysis of Two Muir-Torre Kindreds for msh2 Mutations

Kolodner, Richard D.; Hall, N. R.; Lipford, J. Russell; Kane, Michael F.; Rao, M. R. S.; Morrison, Paul J.; Wirth, Lorinette S.; Finan, P. J.; Burn, John; Chapman, P. H.

doi:10.1006/geno.1994.1661

Cited by 259 publications

(102 citation statements)

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“…It is generally assumed that a defect in any one of these genes would lead to defects in mismatch repair. In fact, mutations in these genes have been found in human HNPCC patients, though the frequencies of mutations in each of the genes were significantly different (Leach et al, 1993;Bronner et al, 1994;Papadopoulos et al, 1994;Kolodner et al, 1995). Thus, there is a possibility that mutations in genes other than Mlh1 might lead to a similar phenotype observed with Mlh1 +/7 and Mlh1 7/7 mice.…”

Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

“…This phenomenon is common to mice defective in mismatch repair (de Wind et al, 1998;Prolla et al, 1998), and such a high incidence of tumors is characteristic of HNPCC patients defective in one of the mismatch repair genes (Leach et al, 1993;Bronner et al, 1994;Papadopoulos et al, 1994;Kolodner et al, 1995).…”

Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

“…and killed 8 weeks later for examination. Data were taken from Kawate et al (1998Kawate et al ( , 2000 Most HNPCC patients have mutations in only one allele of certain mismatch repair genes, but frequently produce tumors (Leach et al, 1993;Bronner et al, 1994;Papadopoulos et al, 1994;Kolodner et al, 1995). Some of these tumors are devoid of mismatch repair protein, a phenomenon similar to that observed in Mlh1 +/7 mice (Kawate et al, 2000).…”

Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

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Gene silencing in phenomena related to DNA repair

Mukai

Sekiguchi²

2002

Oncogene

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DNA methylation is essential for embryonic development and important for transcriptional repression, as observed in several biological phenomena. These include genomic imprinting, X-inactivation and carcinogenesis. The basic mechanism by which DNA methlyation silences transcription is generally understood, but there is still much to be learned about how DNA methyltransferase is targeted to a specific region of the gene. Silencing by DNA methylation occurs at an early stage of carcinogenesis, when the DNA repair genes, MGMT and hMLH1, are frequently inactivated, resulting in mutations in key cancer-related genes in cells. Mice defective in Mgmt and/or Mlh1 gave clear evidence of the significant roles of these proteins in carcinogenesis.Recently, it has been demonstrated that DNA methylation is linked to histone methylation in fungi and plants, although it remains unknown whether this mechanism occurs in mammalian systems.

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Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

Section: Silencing Of Dna Repair Genesmentioning

confidence: 99%

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Gene silencing in phenomena related to DNA repair

Mukai

Sekiguchi²

2002

Oncogene

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“…Mutation analysis of MLH1, MSH2, and PMS2 was performed on genomic DNA isolated from peripheral blood leukocytes by amplifying and direct sequencing of the entire coding sequences and flanking intronic regions of these genes. Sequence analysis in MLH1 and MSH2 was carried out using primers and conditions published elsewhere, 39,40 using Thermo Sequenase Fluorescent Cycle Sequencing kit and Automated Laser Fluorescence (A.L.F.) express sequencing devices as described previously.…”

Section: Molecular Analysesmentioning

confidence: 99%

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1

et al. 2007

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“…Primer sequences for MMR and MYH genes were based on those reported previously with minor modifications. [21][22][23] Primers showed in Table I were chosen for amplification of E-cadherin gene. DHPLC analysis was performed on the WAVE system (Transgenomic) as previously described.…”

Section: Pcr-dhplcmentioning

confidence: 99%

Germline mutations and polymorphic variants in MMR, E‐cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China

Zhang

Liu

Fan

et al. 2006

Intl Journal of Cancer

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Germline mutations in MSH2, MLH1, E-cadherin and MutY (MYH) genes have been implicated in the occurrence of gastric cancer (GC). Epidemiological investigation was performed by recruiting patients with GC onset during 2002 in Jiangsu province, China. We identified suspected hereditary GC patients based on either the GC family history or GC onset at early ages. We have screened germline variations in 101 suspected hereditary GC patients at the coding sequences of MSH2, MLH1, E-cadherin and MYH genes with polymerase chain reaction-denaturing high-performance liquid chromatography (PCR-DHPLC) analysis and DNA sequencing. The result showed that about 40% of patients carried germline variations, predominantly with missense mutations. Of the variations detected are 2 base pair substitutions, c.53C > T and c.74G > A, which is predicted to generate missense mutations of p.Pro18Leu and p.Gly25Asp, respectively, and occurred at the same allele of MYH gene. The frequency of variant haplotype T/A in patients was higher than that in the control group (p 5 0.021, odds ratio [OR] 5 4.43, 95% confidence interval [95% CI] 5 1.33-14.72). Difference in the frequency of the silent mutation p.Asn751Asn in E-cadherin gene was also found between patients and controls (p 5 0.009, OR 5 2.54, 95% CI 5 1.30-4.95). Moreover, 6 types of variations were detected in MSH2 and MLH1 genes in 14 of 101 patients. Most of them occurred at exon7 of MSH2, frequently c.1168C > T, resulting in mutation of p.Leu390Phe. In summary, germline mutation at MSH2, MLH1, E-cadherin and MYH genes is a frequent event in the familial GC. They may form a genetic basis for the familial GC susceptibility in Chinese population. ' 2006 Wiley-Liss, Inc.

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Structure of the Human MSH2 Locus and Analysis of Two Muir-Torre Kindreds for msh2 Mutations

Cited by 259 publications

References 0 publications

Gene silencing in phenomena related to DNA repair

Gene silencing in phenomena related to DNA repair

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1

Germline mutations and polymorphic variants in MMR, E‐cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China

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