Cloning, Characterization and Chromosomal Assignment of the Human Genes Homologous to Yeast PMS1, a Member of Mismatch Repair Genes

Horii, Akira; Han, Hye-Jung; Sasaki, Satoshi; Shimada, Muneaki; Nakamura, Yoshimasa

doi:10.1006/bbrc.1994.2598

Cited by 65 publications

(44 citation statements)

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“…Microsatellite instability (MSI) initially reported in hereditary nonpolyposis colorectal cancer (HNPCC) 245 represents either an expansion or reduction of these sequences. This phenomenon appears to reflect multiple replication errors 246 owing to germ line mutations of mismatch repair genes including human MutL homologue 1 (hMLH1), 247,248 human MutS homologue 2 (hMSH2), 249,250 human post-meiotic segregation 1 (hPMS1) and 2 (hPMS2), 251,252 and GT-binding protein (GTBP). 253 Several studies have shown that mice engineered to be deficient in MLH1, MSH2 or PMS2 had MSI.…”

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

“…[270][271][272][273] These observations imply that defects in the mismatch repair apparatus may cause accumulation of mutations in key oncogenes or tumor suppressor genes as well as in microsatellite sequences, thus contributing to the development of tumors. 250,251,274 However, the proportion and spectrum of sporadic cancers associated with mutations in mismatch repair genes has not been clearly elucidated at this time. Furthermore, the relationship between mutations of mismatch repair genes and MSI have not been observed clearly in sporadic tumors of various tissue with several exceptions.…”

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

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Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

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Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

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“…36 Based on sequence alignment, it is located on chromosome 8, with highly related pseudogenes found on chromosomes 7 (Figure 3), 15, and 17. Of the three known genes mapped to the SDS locus, two (PMS2L4 37 and ZFD25 38 ; Figure 3) belong to gene families with multiple members mapped at 7q11, which is reminiscent of duplicated sequences associated with pericentromeric regions. In the absence of functional studies, it remains unclear whether these represent pseudogenes, or should be considered as candidate genes for SDS.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 99%

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

et al. 2002

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Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreatic dysfunction, haematological and skeletal abnormalities. We have previously defined the SDS locus as a 2.7 cM interval spanning the centromere of chromosome 7. To facilitate additional analysis of this complex and poorly characterised region, a framework of ordered genetic markers at 7p11-q11, including six newly identified, has been constructed using somatic cell, radiation hybrid and STS-content mapping. We have identified shared disease haplotypes, that recur in unrelated families of common ethnic origin, and extend across the SDS locus. Detection of ancestral and intrafamilial recombination events in patients refined the SDS locus to a 1.9 cM interval at 7q11, which contains the tyrosylprotein sulfotransferase 1 (TPST1) gene. Patients with SDS were screened for mutations in TPST1 by sequencing of exons and intron ± exon junctions. Two single nucleotide polymorphisms, but no disease-causing mutations, were identified. In addition, Southern blot analysis yielded no evidence of large-scale mutations, and RT ± PCR analysis failed to detect alterations in expression. These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS.

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“…In recent years, the human homologues of the bacterial MMR enzymes have been discovered. To date, eight such genes have been identi®fed in humans, MLH1 (Bronner et al, 1994;Han et al, 1995), MSH2 Fishel et al, 1993;Peltomaki et al, 1993), MSH3 (Fujii and Shimada, 1989;Watanabe et al, 1996), MSH4 (PaquisFlucklinger et al, 1997), MSH5 (Edelmann et al, 1999;Her and Doggett, 1998), MSH6 (Drummond et al, 1995;Palombo et al, 1995;Papadopoulos et al, 1995), PMS1 (Horii et al, 1994;Nicolaides et al, 1994) and PMS2 (Narayanan et al, 1997;Nicolaides et al, 1994), but their mechanisms of action have not yet been fully elucidated. In humans MMR de®ciency was initially associated with the hereditary syndrome HNPCC (Hereditary Non-Polyposis Colorectal Cancer) (de la Chapelle and Peltomaki, 1995), a relatively common genetic condition that a ects 1 : 200 people.…”

Section: Introductionmentioning

confidence: 99%

DNA methylator and mismatch repair phenotypes are not mutually exclusive in colorectal cancer cell lines

et al. 2000

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A potential link between DNA repair and de novo methylation of exogenous sequences in colorectal cancer cell lines suggested that cells de®cient in mismatch repair (MMR 7 ) had an increased ability to silence the introduced virus promoter by DNA methylation due to the presence of a methylator phenotype (MET + ) (Lengauer et al., 1997a). We explored this relationship in more detail and found that although there was a clear di erence in the abilities of MMR + cells to express the viral promoter compared to their MMR 7 counterparts, this di erence was not consistently explained by levels of methylation in the viral promoter. Furthermore, we were unable to distinguish di erences between the levels of methylation of six endogenous known CpG islands or 100 random DNA fragments containing CCGG sites within the cells. No consistent di erences between the abilities of the cells to methylate the CpG island in exon 2 of the p16 gene were observed after transient demethylation by 5-aza-2'-deoxycytidine nor in the levels of expression of three human methyltransferase enzymes. Our results do not therefore support the existence of mutually exclusive DNA methylation (MET) and DNA repair (MMR) phenotypes. Oncogene (2000) 19, 943 ± 952.

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Cloning, Characterization and Chromosomal Assignment of the Human Genes Homologous to Yeast PMS1, a Member of Mismatch Repair Genes

Cited by 65 publications

References 0 publications

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

DNA methylator and mismatch repair phenotypes are not mutually exclusive in colorectal cancer cell lines

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