PMS2

Summary

Gene Symbol: PMS2
Description: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Alias: HNPCC4, PMS2CL, PMSL2, DNA mismatch repair protein PMS2, H_DJ0042M02.9, PMS1 protein homolog 2, mismatch repair endonuclease PMS2
Species: human

Top Publications

  1. pmc BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
    Y Wang
    Verna and Mars McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 14:927-39. 2000
  2. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
  3. ncbi Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer
    Kaspar Truninger
    Institute of Molecular Cancer Research, University of Zurich, Switzerland
    Gastroenterology 128:1160-71. 2005
  4. ncbi RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
    J Etzler
    Department of Medical Genetics, Medical University Vienna, Vienna, Austria
    Hum Mutat 29:299-305. 2008
  5. ncbi Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene
    N C Nicolaides
    Howard Hughes Medical Institute, Baltimore, Maryland 21231, USA
    Genomics 29:329-34. 1995
  6. pmc Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
    Christina Ganster
    Department of Medical Genetics, Medical University Vienna, Austria
    Hum Mutat 31:552-60. 2010
  7. doi Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines
    Johanna C Herkert
    Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Cancer 47:965-82. 2011
  8. ncbi Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
  9. doi A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
    M Clendenning
    Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    J Med Genet 45:340-5. 2008
  10. ncbi Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
    Melissa C Southey
    Genetic Epidemiology Laboratory, Department of Pathology, Australia
    J Clin Oncol 23:6524-32. 2005

Research Grants

  1. INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERS
    Sapna Syngal; Fiscal Year: 2004
  2. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
  3. Understanding ceftazidime resistance in SHV B-Lactamases
    ROBERT BONOMO; Fiscal Year: 2009
  4. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    Janet Stavnezer; Fiscal Year: 2004
  5. Mammalian DNA Repair Proteins in Meiotic Recombination
    Paula Cohen; Fiscal Year: 2007
  6. LYMPHOMAGENESIS OF O6-METHYLGUANINE
    Stanton Gerson; Fiscal Year: 2002
  7. DNA Mismatch Repair and associated genes in suppression of GI adenomas and carcin
    STEVEN MONROE LIPKIN; Fiscal Year: 2010
  8. DNA replication, DNA repair and microsatellite stability
    Kristin Eckert; Fiscal Year: 2009
  9. IMMUNITY IN TRANSGENIC MICE
    Erik Selsing; Fiscal Year: 2010
  10. IMMUNITY IN TRANSGENIC MICE
    Erik Selsing; Fiscal Year: 2007

Detail Information

Publications186 found, 100 shown here

  1. pmc BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
    Y Wang
    Verna and Mars McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 14:927-39. 2000
    ..Collectively, these results suggest that BRCA1 may function as a coordinator of multiple activities required for maintenance of genomic integrity during the process of DNA replication and point to a central role for BRCA1 in DNA repair...
  2. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
    ..also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers...
  3. ncbi Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer
    Kaspar Truninger
    Institute of Molecular Cancer Research, University of Zurich, Switzerland
    Gastroenterology 128:1160-71. 2005
    ..The protein encoded by PMS2 is also essential for MMR; however, alterations in this gene have been documented only in extremely rare cases...
  4. ncbi RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
    J Etzler
    Department of Medical Genetics, Medical University Vienna, Vienna, Austria
    Hum Mutat 29:299-305. 2008
    ..detection in the PMS2 gene is severely hampered by the presence of multiple highly similar pseudogenes, including PMS2CL. Using this assay, which is based on direct cDNA sequencing of RT-PCR products, we investigated two families with ..
  5. ncbi Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene
    N C Nicolaides
    Howard Hughes Medical Institute, Baltimore, Maryland 21231, USA
    Genomics 29:329-34. 1995
    The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC)...
  6. pmc Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
    Christina Ganster
    Department of Medical Genetics, Medical University Vienna, Austria
    Hum Mutat 31:552-60. 2010
    Sequence exchange between PMS2 and its pseudogene PMS2CL, embedded in an inverted duplication on chromosome 7p22, has been reported to be an ongoing process that leads to functional PMS2 hybrid alleles containing PMS2- and PMS2CL-specific ..
  7. doi Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines
    Johanna C Herkert
    Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Cancer 47:965-82. 2011
    Bi-allelic germline mutations of one of the DNA mismatch repair genes, so far predominantly found in PMS2, cause constitutional MMR-deficiency syndrome...
  8. ncbi Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
    ..Patients with MSI-positive tumors underwent testing for germ line mutations in MLH1, MSH2, MSH6, and PMS2. Of 543 tumors studied, 118 (21.7%) were MSI positive (98 of 118 MSI high and 20 of 118 MSI low)...
  9. doi A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
    M Clendenning
    Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    J Med Genet 45:340-5. 2008
    When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples ..
  10. ncbi Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
    Melissa C Southey
    Genetic Epidemiology Laboratory, Department of Pathology, Australia
    J Clin Oncol 23:6524-32. 2005
    ..The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis...
  11. ncbi The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer
    S Guerrette
    Genetics and Molecular Biology Program, Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 274:6336-41. 1999
    ....
  12. pmc Human postmeiotic segregation 2 exhibits biased repair at tetranucleotide microsatellite sequences
    Sandeep N Shah
    Department of Pathology, Gittlen Cancer Research Foundation and Intercollege Graduate Degree Program in Genetics, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
    Cancer Res 69:1143-9. 2009
    ..This study also provides clues to possible mechanisms of repair by hPMS2 in the context of the MMR system...
  13. ncbi Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
    Yvonne M C Hendriks
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Gastroenterology 130:312-22. 2006
    The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected families...
  14. ncbi A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations
    Emiko Kondo
    Department of Molecular Pathology, Tohoku University School of Medicine, Miyagi 980 8575, Japan
    Cancer Res 63:3302-8. 2003
    ..Thus, this method provides a simple and reliable system for accurate diagnosis of hMLH1 alterations...
  15. ncbi A defined human system that supports bidirectional mismatch-provoked excision
    Leonid Dzantiev
    Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA
    Mol Cell 15:31-41. 2004
    ..By contrast, RFC and PCNA have only a limited effect on 5' to 3' excision directed by a 5' strand break...
  16. pmc Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin
    Hideki Shimodaira
    Ludwig Institute for Cancer Research, University of California at San Diego, Bonner Hall 3326, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 100:2420-5. 2003
    ..Here, we describe an interaction between PMS2, an MMR protein, and p73...
  17. pmc Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q
    Ivana Marinovic-Terzic
    Moores Cancer Center, University of California, San Diego, School of Medicine, 3855 Health Sciences Drive, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 105:13993-8. 2008
    ..It is shown that postmeiotic segregation 2 (PMS2), an MMR protein, is required for cisplatin-induced activation of p73, a member of the p53 family of transcription ..
  18. ncbi Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA
    Finn Cilius Nielsen
    Department of Clinical Biochemistry, Rigshospitalet, DK 2100 Copenhagen, Denmark
    Oncogene 23:1457-68. 2004
    ..Taken together, the results support a model in which hEXO1 plays a role in events at the replication sites as well as a functional role in the MMR and/or recombination processes...
  19. ncbi Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
    Hidewaki Nakagawa
    Division of Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 64:4721-7. 2004
    ..We detected and characterized a new transcript, PMS2CL, showing 98% sequence identity with exons 9 and 11-15 of PMS2 and emanating from a locus close to PMS2 in ..
  20. ncbi PMS2 mutations in childhood cancer
    Michel De Vos
    University of Leeds, Yorkshire Regional Genetics Service, United Kingdom
    J Natl Cancer Inst 98:358-61. 2006
    Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus...
  21. ncbi Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
    N C Nicolaides
    Johns Hopkins Oncology Center, Baltimore, Maryland 21231
    Nature 371:75-80. 1994
    ..Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease...
  22. ncbi Genomic organization of the human PMS2 gene family
    N C Nicolaides
    Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA
    Genomics 30:195-206. 1995
    The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form...
  23. ncbi Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
    Stefan Kruger
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    Eur J Hum Genet 16:62-72. 2008
    Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome...
  24. pmc Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
    Michel De Vos
    Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom
    Am J Hum Genet 74:954-64. 2004
    ..However, autozygosity mapping indicated linkage to a region of 7p22 surrounding the PMS2 mismatch-repair gene. Sequencing of genomic PCR products initially failed to identify a PMS2 mutation...
  25. ncbi Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation
    Jessie Auclair
    Centre Leon Berard, Unité d Oncologie Moléculaire, Lyon, France
    Hum Mutat 28:1084-90. 2007
    ..carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 gene. Interestingly, the inactivation of one PMS2 allele was likely caused by gene conversion...
  26. ncbi Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation
    Sharlene Gill
    British Columbia Cancer Agency, Vancouver, British Columbia, Canada
    Clin Cancer Res 11:6466-71. 2005
    ..The genetic deficiency leading to the MSI-H phenotype in such cases is unknown. PMS2 is another member of the DNA mismatch repair complex...
  27. doi The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein family
    Jan Kosinski
    Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Trojdena 4, 02 109 Warsaw, Poland
    J Mol Biol 382:610-27. 2008
    ..Finally, we demonstrate that the conserved residues of the metal ion binding domain are crucial for MMR activity of MutLalpha in vitro...
  28. ncbi Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair
    Guy Tomer
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA
    J Biol Chem 277:21801-9. 2002
    MutLalpha, a heterodimer composed of Mlh1 and Pms2, is the major MutL activity in mammalian DNA mismatch repair. Highly conserved motifs in the N termini of both subunits predict that the protein is an ATPase...
  29. ncbi Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAX
    Mary Mac Partlin
    Department of Medical Oncology, Glasgow University, UK
    Oncogene 22:819-25. 2003
    ..The effect on HGPRT mutation rate is small (2-3-fold), but is consistent with deregulated c-MYC expression partially inhibiting MMR activity...
  30. ncbi Clinical implications of advances in the molecular genetics of colorectal cancer
    H T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68179, USA
    Tumori 81:19-29. 1995
    ..PMS1 at chromosome 2p and PMS2 2 at chromosome 7q have also been implicated in HNPCC's etiology...
  31. ncbi Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice
    L L Richardson
    Department of Biochemistry and Cellular and Molecular Biology, University of Tennessee, Knoxville, Tennessee 37996 0840, USA
    Biol Reprod 62:789-96. 2000
    ..reverse transcription-polymerase chain reaction approach to identify germ cell transcripts for the MutL homologue, Pms2, and two members of the MutS family, Msh2 and Msh3...
  32. pmc Giant virus with a remarkable complement of genes infects marine zooplankton
    Matthias G Fischer
    Department of Microbiology, University of British Columbia, Vancouver, BC, Canada V6T 1Z4
    Proc Natl Acad Sci U S A 107:19508-13. 2010
    ..CroV is a highly complex marine virus and the only virus studied in genetic detail that infects one of the major groups of predators in the oceans...
  33. doi [How can we diagnose and better understand inflammatory myopathies? The usefulness of auto-antibodies]
    Jean Sibilia
    CHU de Strasbourg, Hopital Hautepierre, Service de Rhumatologie, Laboratoire d Immunologie, 67098 Strasbourg Cedex, France
    Presse Med 39:1010-25. 2010
    ..Other auto-antibodies are directed against nuclear auto-antigens: the anti-Mi-2, anti-PMS (PMS1, PMS2) and related antibodies (MLH1, DNA PKcs…), anti-56 kDa, anti-MJ (NXP-2), anti-SAE and anti-p155/p140 (TIF-1γ)...
  34. ncbi Paternal exposure to cyclophosphamide induces DNA damage and alters the expression of DNA repair genes in the rat preimplantation embryo
    W Harrouk
    Departments of Pharmacology and Therapeutics, McGill University, 3655 Promenade Sir William Osler, Montreal, H3G 1Y6, Quebec, Canada
    Mutat Res 461:229-41. 2000
    ..transcripts for specific members of the nucleotide excision repair family (XPC) and mismatch repair family (MSH2, PMS2) were elevated greatly in control embryos compared to embryos sired by drug-treated males; in contrast, transcripts ..
  35. ncbi Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic development
    Jon S Larson
    Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, Cincinnati, OH 45267 0524, USA
    Mutat Res 556:45-53. 2004
    The effects of lack of the mismatch repair protein PMS2 on germline and maternal-effect mutations were studied in transgenic mice that allow mutant cells to be visualized in situ...
  36. ncbi A novel trinuclear platinum complex overcomes cisplatin resistance in an osteosarcoma cell system
    P Perego
    Division of Experimental Oncology B, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
    Mol Pharmacol 55:528-34. 1999
    ..ICL) formation and DNA platination, microsatellite instability, and reduced expression of the DNA mismatch repair protein PMS2. Despite BBR 3464 charge and molecular size, in U2-OS and U2-OS/Pt cells, BBR 3464 accumulation and ..
  37. pmc Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer
    L I H Overbeek
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Br J Cancer 96:1605-12. 2007
    ..for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2. Characteristics of the 76 families with a germline mutation (24 MLH1, 2 PMS2, 32 MSH2, and 18 MSH6) were compared ..
  38. ncbi Mice defective in the DNA mismatch gene PMS2 are hypersensitive to MNU induced thymic lymphoma and are partially protected by transgenic expression of human MGMT
    X Qin
    Division of Hematology Oncology, Case Western Reserve University, Cleveland, Ohio, OH 44106 4937, USA
    Oncogene 18:4394-400. 1999
    DNA mismatch repair (MMR) stabilizes the cellular genome. Mice defective in the MMR gene PMS2 are susceptible to spontaneous thymic lymphoma and sarcomas...
  39. pmc Attaching and effacing Escherichia coli downregulate DNA mismatch repair protein in vitro and are associated with colorectal adenocarcinomas in humans
    Oliver D K Maddocks
    Division of Pathology, Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    PLoS ONE 4:e5517. 2009
    ..We hypothesised that EPEC infection could influence molecular pathways involved in colorectal tumourigenesis...
  40. doi Endometrial and ovarian carcinomas with undifferentiated components: clinically aggressive and frequently underrecognized neoplasms
    Laura J Tafe
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Mod Pathol 23:781-9. 2010
    ..expression by immunohistochemistry was evaluated in 17 cases, and 8 (47%) were abnormal (7 with loss of MLH1/PMS2 and 1 with MSH6 loss)...
  41. pmc Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors
    Nurten Saydam
    Institute of Molecular Cancer Research of the University of Zurich, Switzerland
    Nucleic Acids Res 35:5706-16. 2007
    ..Here we show that WRN physically interacts with the MSH2/MSH6 (MutSalpha), MSH2/MSH3 (MutSbeta) and MLH1/PMS2 (MutLalpha) heterodimers that are involved in the initiation of mismatch repair (MMR) and the rejection of ..
  42. doi Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome
    C P Kratz
    Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstr 41, 6020 Innsbruck, Austria
    J Med Genet 46:418-20. 2009
    Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1)...
  43. doi Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities
    Karuna Garg
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Am J Surg Pathol 33:925-33. 2009
    ..The rate of IHC abnormality in the younger group was approximately 30% with a nearly equal distribution of MLH1/PMS2 and MSH2/MSH6 abnormalities. In the older age group, TM-MMR triggered IHC analysis in 31 of 34 cases...
  44. ncbi Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer
    J Teruya-Feldstein
    Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
    Leuk Lymphoma 43:1619-26. 2002
    ..These MMR genes include MLH1, MSH2, MSH3, MSH6, PMS1 and PMS2. We sought to analyze the occurrence of NHL and HD in families with clusters of colorectal cancers (CRC)...
  45. ncbi BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage
    Kazuhiko Yamane
    Department of Radiation Oncology, Case Western Reserve University and Case Comprehensive Cancer Center University Hospitals Case Medical Center, Cleveland, Ohio 44106 6068, USA
    Cancer Res 67:6286-92. 2007
    ..The MMR proteins MSH2, MSH6, MLH1, and PMS2 are similarly detected in both cell lines...
  46. pmc Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers
    Katarina Zavodna
    Laboratory of Cancer Genetics, Cancer Research Institute of Slovak Academy of Sciences, Vlarska 7, 833 91 Bratislava, Slovak Republic
    BMC Cancer 9:405. 2009
    ..We sought to determine the frequency of LGRs in Slovak HNPCC patients and to study LOH in tumors from LGR carriers at the LGR region, as well as at other heterozygous markers within the gene to more precisely define conversion tracts...
  47. ncbi Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
    Olivia Will
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
    Gastroenterology 132:527-30. 2007
    ..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...
  48. doi A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts
    Wenche Sjursen
    Department of Pathology and Medical Genetics, St Olavs University Hospital, Erling Skjalgssons gt 1, 7006 Trondheim, Norway
    Fam Cancer 8:179-86. 2009
    ..cDNA analysis was carried out for the mismatch repair gene PMS2. The patients genotype was found to be a homozygous splice site mutation in the PMS2 gene, c...
  49. doi Baseline expression profile of meiotic-specific genes in healthy fertile males
    Carme Nogues
    Departament Biologia Cel lular, Fisiologia i Immunologia, Universitat Autonoma Barcelona, Bellaterra, Spain
    Fertil Steril 92:578-82. 2009
    To establish the quantitative gene-expression profile of nine meiotic genes involved in synapsis and chromosome cohesion (SYCP1, SPO11, MSH4, MSH5, MLH1, MLH3, PMS2, STAG3, and REC8) in healthy fertile males.
  50. ncbi Modulation of error-prone double-strand break repair in mammalian chromosomes by DNA mismatch repair protein Mlh1
    Laura A Bannister
    Department of Biological Sciences, University of South Carolina, 700 Sumter Street, Columbia, SC 29208, USA
    DNA Repair (Amst) 3:465-74. 2004
    ..Collectively, our results suggest that Mlh1 modulates error-prone NHEJ by inhibiting the annealing of DNA ends containing noncomplementary base pairs or by promoting the annealing of microhomologies...
  51. pmc TGF-beta signaling alterations and susceptibility to colorectal cancer
    Yanfei Xu
    Cancer Genetics Program, Division of Hematology Oncology, Department o Medicine, Robert H Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
    Hum Mol Genet 16:R14-20. 2007
    ..all colorectal cancer cases, a fraction higher than that attributable to mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Furthermore, TGFBR1*6A is emerging as a potent modifier of colorectal cancer risk among individuals with a strong ..
  52. doi Compromised repair of clustered DNA damage in the human acute lymphoblastic leukemia MSH2-deficient NALM-6 cells
    Stewart M Holt
    Department of Biology, Thomas Harriot College of Arts and Sciences, East Carolina University, Greenville, NC 27858, USA
    Mutat Res 674:123-30. 2009
    ..Our studies suggest that MSH2 is probably involved in the processing of the biologically significant clustered DNA damages as well as the execution of apoptosis induced by ionizing radiation...
  53. doi Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger
    Kristin C Jensen
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Am J Surg Pathol 32:1029-37. 2008
    ..D5S346, and D17S250) and deficiency of MMR protein expression by immunohistochemistry (MLH1, MSH2, MSH6, and PMS2)...
  54. pmc Genome-scale identification method applied to find cryptic aminoglycoside resistance genes in Pseudomonas aeruginosa
    Julie M Struble
    Department of Chemical and Biological Engineering, University of Colorado, Boulder, CO, USA
    PLoS ONE 4:e6576. 2009
    ..Improving understanding of the evolution and genetic basis of resistance is a fundamental goal in the field of microbiology...
  55. pmc Hijacked DNA repair proteins and unchained DNA polymerases
    Huseyin Saribasak
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    Philos Trans R Soc Lond B Biol Sci 364:605-11. 2009
    ..In the mutagenic pathway, we first studied the role of mismatch repair proteins, MSH2, MSH3, MSH6, PMS2 and MLH1, since they would recognize mismatches...
  56. ncbi Heterozygous DNA mismatch repair gene PMS2-knockout mice are susceptible to intestinal tumor induction with N-methyl-N-nitrosourea
    X Qin
    Division of Hematology Oncology and Ireland Cancer Center, University Hospitals of Cleveland and Case Western Reserve University, Cleveland, OH 44106 4937, USA
    Carcinogenesis 21:833-8. 2000
    b>PMS2-deficient (PMS2(-/-)) mice are hypersensitive to N-methyl-N-nitrosourea (MNU)-induced thymic lymphomas based on the failure to initiate mismatch repair (MMR) at O(6)-methylguanine:T mismatches formed after MNU exposure...
  57. ncbi Frequency and types of spontaneous Hprt lymphocyte mutations in Pms2-deficient mice
    Joseph G Shaddock
    Division of Genetic and Reproductive Toxicology, National Center for Toxicological Research, US FDA, Jefferson, AR 72079, USA
    Mutat Res 595:69-79. 2006
    Deficiencies in DNA mismatch repair (MMR) result in predisposition to neoplasia in both rodents and humans. Pms2 is one of the several proteins involved in the eukaryotic MMR system...
  58. ncbi Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma
    Ippolito Modica
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Am J Surg Pathol 31:744-51. 2007
    ..Overall, IHC with MLH1 and MSH2 antibodies detected 69% of MSI-H tumors with a specificity of 100%. Adding PMS2 and MSH6 to the antibody panel increased the sensitivity to 91% but decreased the specificity to 83%...
  59. ncbi Transgenic expression of human MGMT blocks the hypersensitivity of PMS2-deficient mice to low dose MNU thymic lymphomagenesis
    X Qin
    Division of Hematology Oncology and the Ireland Cancer Center, Case Western Reserve University, Cleveland, OH 44106 4937, USA
    Carcinogenesis 20:1667-73. 1999
    Mice deficient in the DNA mismatch repair (MMR) gene, PMS2, develop spontaneous thymic lymphomas and sarcomas. We have previously shown that PMS2(-/-) mice were hypersensitive to a single i.p...
  60. pmc Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry
    Jinru Shia
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    J Mol Diagn 10:293-300. 2008
    ..More recent studies that included postmeiotic segregation increased 2 (PMS2) and MSH6, on the other hand, have demonstrated an IHC predictive value that is virtually equivalent to that of MSI ..
  61. ncbi Hypermutability to ionizing radiation in mismatch repair-deficient, Pms2 knockout mice
    X S Xu
    Departments of Therapeutic Radiology and Genetics, Yale University School of Medicine, New Haven, Connecticut 06520 8040, USA
    Cancer Res 61:3775-80. 2001
    ..this tolerance phenotype would render MMR-deficient animals hypermutable to IR, we compared IR mutagenesis of Pms2-deficient versus wild-type transgenic mice carrying a lambda shuttle vector for mutation detection...
  62. ncbi Ntg2p, a Saccharomyces cerevisiae DNA N-glycosylase/apurinic or apyrimidinic lyase involved in base excision repair of oxidative DNA damage, interacts with the DNA mismatch repair protein Mlh1p. Identification of a Mlh1p binding motif
    Lionel Gellon
    Commissariat a l Energie Atomique, Departement de Radiobiologie et Radiopathologie, UMR217 CNRS CEA Radiobiologie Moléculaire et Cellulaire, Fontenay aux Roses 92265, France
    J Biol Chem 277:29963-72. 2002
    ..Therefore, we propose that the R/K-S-R/K-Y/F-Y/F sequence could define a Mhl1 binding motif. The results also suggest that base excision repair and MMR can cooperate to prevent deleterious effects of oxidative DNA damage...
  63. ncbi Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours
    Andrew Ruszkiewicz
    Institute of Medical and Veterinary Science, Tissue Pathology, Royal Adelaide Hospital, Adelaide, South Australia
    Pathology 34:541-7. 2002
    The aim of this study was to assess the performance of immunohistochemistry using antibodies for MLH1, MSH2, MSH6 and PMS2 mismatch repair gene proteins against microsatellite instability (MSI) testing.
  64. pmc Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair
    Jan Kosinski
    Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Warsaw, Poland
    Hum Mutat 31:975-82. 2010
    ..are located in the C-terminal domain (CTD) of MLH1, which is responsible for constitutive dimerization with PMS2. We analyzed which alterations may result in pathogenic effects due to interference with dimerization...
  65. ncbi Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting
    Lucia I H Overbeek
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
    Am J Surg Pathol 32:1246-51. 2008
    ..from 5 different pathology laboratories evaluated 100 molecularly defined colorectal cancers stained for MLH1, PMS2, MSH2, and MSH6...
  66. pmc Adenosine triphosphate stimulates Aquifex aeolicus MutL endonuclease activity
    Jerome Mauris
    New England Biolabs, Inc, Ipswich, Massachusetts, USA
    PLoS ONE 4:e7175. 2009
    Human PMS2 (hPMS2) homologues act to nick 5' and 3' to misincorporated nucleotides during mismatch repair in organisms that lack MutH. Mn(++) was previously found to stimulate the endonuclease activity of these homologues...
  67. ncbi Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations
    Steffen Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Cancer Lett 248:89-95. 2007
    ..disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3...
  68. ncbi Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes
    Leeanne J Mead
    Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
    Clin Cancer Res 13:2865-9. 2007
    ..We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes...
  69. ncbi Methylation damage response in hematopoietic progenitor cells
    Ida Casorelli
    Section of Experimental Carcinogenesis, Department of Environment and Primary Prevention, Istituto Superiore di Sanita, Rome, Italy
    DNA Repair (Amst) 6:1170-8. 2007
    ..The overexpressed genes included members of the mismatch repair (MMR) (MSH2, MSH6, MLH1, PMS2), base excision repair (AAG, APEX), DNA damage reversal (O(6)-methylguanine DNA methyltransferase) (MGMT), and DNA ..
  70. doi Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics
    Lurmag Orta
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Am J Surg Pathol 33:934-44. 2009
    ..with 1 or more sebaceous neoplasms based on the pattern of immunohistochemical expression of MLH1, MSH2, MSH6, and PMS2, and comparatively analyzed their clinical and pathologic characteristics, including tumor-infiltrating lymphocytes ..
  71. pmc Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma
    C Durno
    Division of Gastroenterology and Clinical Nutrition, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, Ontario, Canada M5G 1X8
    Gut 54:1146-50. 2005
    ..Colorectal cancer is extremely rare in childhood. Published case series reporting children and adolescents with colorectal cancer have not focused on the underlying genetic aspects of the tumour or genetic susceptibility of the families...
  72. doi Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis
    Ernest Terribas
    Medical and Molecular Genetics Center Fundació IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
    J Androl 31:346-57. 2010
    ..of MMR genes in impaired human spermatogenesis, we performed transcript levels analysis of MMR genes (MLH1, MLH3, PMS2, MSH4, and MSH5), and other meiosis-involved genes (ATR, HSPA2, and SYCP3) as controls, by real-time reverse ..
  73. ncbi Analysis of the quaternary structure of the MutL C-terminal domain
    Jan Kosinski
    Institut für Biochemie FB 08, Justus Liebig Universitat, Giessen D 35392, Germany
    J Mol Biol 351:895-909. 2005
    ....
  74. doi Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma
    Fei Bao
    Department of Pathology, Columbia University Medical Center, Weill Cornell Medical College, New York, NY, USA
    Am J Surg Pathol 34:1798-804. 2010
    ..instability (MSI), and the combined results of mutL homolog 1 (MLH1), postmeiotic segregation increased 2 (PMS2), mutS homolog 2 (MSH2), or mutS homolog 6 (MSH6) immunostains may point to the defective MMR protein in tumors ..
  75. ncbi Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients--will the ends justify the means?
    Michael J Hall
    Medical Oncology and Cancer Prevention and Control, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    J Natl Compr Canc Netw 8:606-11. 2010
    Inherited mutations in 1 of 4 known mismatch repair genes (MLH1, MSH2, MSH6, PMS2) are associated with various cancer risks collectively referred to as Lynch syndrome...
  76. doi Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil
    Silvia Liliana Cossio
    Programa de Pós Graduação em Medicina Ciências Gastroenterológicas, Universidade Federal do Rio Grande do Sul UFRGS, Porto Alegre, RS, Brazil
    Fam Cancer 9:131-9. 2010
    ..syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-..
  77. ncbi The Bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6
    Graziella Pedrazzi
    Institute of Veterinary Biochemistry and Molecular Biology, University of Zurich, Winterthurerstr 190, CH 8057 Zurich, Switzerland
    Biol Chem 384:1155-64. 2003
    ....
  78. pmc Genetic susceptibility to distinct bladder cancer subphenotypes
    Lin T Guey
    Spanish National Cancer Research Centre, Madrid, Spain
    Eur Urol 57:283-92. 2010
    ..It is conceivable that specific patterns of genetic susceptibility are associated with particular subphenotypes...
  79. pmc Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6
    Denise Campisi Hegan
    Department of Therapeutic Radiology, Yale University School of Medicine, PO Box 208040, New Haven, CT 06520 8040, USA
    Carcinogenesis 27:2402-8. 2006
    ..in MMR-deficient mice using two transgenic reporter genes, supFG1 and cII, in the context of mice deficient for Pms2, Mlh1, Msh2, Msh3 or Msh6 or both Msh2 and Msh3 or both Msh3 and Msh6...
  80. ncbi Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A
    T Kato
    Radiation Biology Center, Kyoto University, Kyoto 606, Japan
    Mutat Res 422:279-83. 1998
    ....
  81. pmc Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I
    Nadine K Kolas
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Cell Biol 171:447-58. 2005
    ..Mutations of three of the four MutL homologues (Mlh1, Mlh3, and Pms2) result in meiotic defects...
  82. pmc Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency
    Jinru Shia
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Mod Pathol 26:131-8. 2013
    ..Our analyses showed that these tumors belonged to two distinct categories: (1) MLH1 and/or PMS2 protein-deficient carcinomas (n=5, including 1 with a pathogenic mutation in PMS2); and (2) MLH1, PMS2 and MSH2 ..
  83. doi Mismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndrome
    Elizabeth F Plocharczyk
    Department of Pathology, The Wexner Medical Center at the Ohio State University, Columbus, OH, USA
    Am J Dermatopathol 35:191-5. 2013
    ..IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP ..
  84. doi Contributions of molecular analysis to the diagnosis and treatment of gastrointestinal neoplasms
    Andrew M Bellizzi
    Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA 52242 Electronic address
    Semin Diagn Pathol 30:329-61. 2013
    ..clinical applications of 11 immunohistochemical stains (p53, HER2, KIT, SDHB, SMAD4, beta-catenin, L-FABP, MLH1, PMS2, MSH2, and MSH6), the results of which directly reflect underlying genetic or epigenetic events...
  85. doi Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach
    Douglas J Hartman
    Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213
    Hum Pathol 44:2518-28. 2013
    ..A significant proportion (32%) of LS-associated colorectal carcinoma is identified in patients >60 years. Finally, our results demonstrate similar morphologic features between LS-associated and sporadic MSI-H colorectal carcinomas. ..
  86. pmc Recurrent and founder mutations in the PMS2 gene
    J Tomsic
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Clin Genet 83:238-43. 2013
    Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer...
  87. ncbi The effect of cold storage on recombination frequencies in human male testicular cells
    F Sun
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Cytogenet Genome Res 106:39-42. 2004
    ..These results demonstrate that testicular specimens may be shipped on ice without compromising data on chromosome pairing and recombination in early meiosis...
  88. ncbi Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells
    C Tease
    Department of Biological Sciences, University of Warwick, Coventry, UK
    Cytogenet Genome Res 107:208-15. 2004
    ..A preliminary investigation of SC loop size by fluorescence in situ hybridization (FISH) indicated loops may be shorter in oocytes than in spermatocytes...
  89. doi Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expression
    Raul S Gonzalez
    Department of Pathology, Emory University, Atlanta, GA 30322, USA
    Pediatr Dev Pathol 15:192-8. 2012
    ..Germ line mutations in DNA mismatch repair (MMR) genes (eg, MLH1, MSH2, PMS2, MSH6) have been established as the molecular genetic basis of Lynch syndrome...
  90. pmc Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulation
    Andrew Pierce
    Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom
    PLoS ONE 7:e38928. 2012
    ..Validation of a common change was also undertaken with PMS2, a DNA mismatch repair protein...
  91. ncbi [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation]
    D Ilencikova
    II detská klinika, LF UK a DFNsP Bratislava, Slovenska republika
    Klin Onkol 25:S34-8. 2012
    ..Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset ..
  92. ncbi Relationship between DNA mismatch repair genes expression, Ku-genes expression and ploidy-related parameters in the progression of pigmented lesions of the skin
    Monika Korabiowska
    Department of Cytopathology, Department of Gastroenteropathology, Georg August University Gottingen, 37075 Gottingen, Germany
    In Vivo 16:317-21. 2002
    Defects of DNA repair systems in cutaneous tumours are related to DNA mismatch repair genes (MLH1, MSH2, PMS1, PMS2) and Ku70/80 genes involved in double- strand repair...
  93. ncbi Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer
    Yian Chen
    Laboratory of Cancer Genomics, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA
    Int J Oncol 22:1033-43. 2003
    ..paraffin-embedded human prostate tumors, showed reduction or absence of MMR protein expression (MLH1, MSH2, PMS2) in the epithelium of prostate tumor foci compared to normal adjacent prostate tissue...
  94. ncbi Evidence for the lack of mismatch-repair directed antirecombination during mouse meiosis
    J Qin
    Molecular Biology Program, University of Southern California, 835 West 37th St, Los Angeles, CA 90089 1340, USA
    J Hered 93:201-5. 2002
    Meiotic recombination was studied in DNA mismatch repair (MMR)-deficient mice using a strain carrying a Pms2 knockout mutation...
  95. doi High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers
    Eli Marie Grindedal
    Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Medical Centre, Oslo, Norway
    Fam Cancer 8:145-51. 2009
    ..rates of endometrial cancer in women either having a mutation in one of the four MMR genes MLH1, MSH2, MSH6 or PMS2 (Mut+) or belonging to families meeting the revised Amsterdam criteria in which no MMR mutation was detected (Ams+)...
  96. pmc The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2
    E Kondo
    Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Miyagi, 980 8575, Japan
    Nucleic Acids Res 29:1695-702. 2001
    ..Furthermore, we show that there is competition for the interacting domain in hMLH1 among the three other MutL homologues. Therefore, the quantitative balance of these three MutL heterodimers may be important in their functions...
  97. pmc Different mutator phenotypes in Mlh1- versus Pms2-deficient mice
    X Yao
    Molecular Biology Program, University of Southern California, Los Angeles, CA 90089 1340, USA
    Proc Natl Acad Sci U S A 96:6850-5. 1999
    ..Mouse strains homozygous for knockouts of either the Pms2 or Mlh1 MMR gene develop cancer but exhibit very different tumor spectra; only Mlh1(-/-) animals develop intestinal ..
  98. doi Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaks
    Sascha E Liberti
    Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    DNA Repair (Amst) 10:73-86. 2011
    ..Our results reveal that protein domains in hEXO1 in conjunction with specific protein interactions control bi-directional routing of hEXO1 between on-going DNA replication and repair processes in living cells...
  99. pmc Mlh1 can function in antibody class switch recombination independently of Msh2
    Carol E Schrader
    Department of Molecular Genetics and Microbiology, and Program in Immunology and Virology, University of Massachusetts Medical School, 55 Lake Ave North, Worcester, MA 01655 0122, USA
    J Exp Med 197:1377-83. 2003
    ..analyses of switch recombination junctions indicated that the roles of Msh2 and the MutL homologues, Mlh1 and Pms2, differ. We now asked if Msh2 and Mlh1 function in the same pathway during switch recombination...
  100. doi Differences and evolution of the methods for the assessment of microsatellite instability
    L Laghi
    Department of Gastroenterology, IRCCS Istituto Clinico Humanitas, Rozzano, Milano, Italy
    Oncogene 27:6313-21. 2008
    ..cancers, the MSI signature identifies hereditary cases arising in patients with germline mutations in hMLH1, hMSH2, PMS2 and a fraction of those with hMSH6 mutations, as well as sporadic cancers with epigenetic hMLH1 promoter ..
  101. ncbi Hypermutation in Ig V genes from mice deficient in the MLH1 mismatch repair protein
    Q H Phung
    Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    J Immunol 162:3121-4. 1999
    ..Previous studies have shown that V genes from mice deficient for the MSH2 and PMS2 mismatch repair proteins have frequencies of mutation that are comparable with those from wild-type (wt) mice; ..

Research Grants67

  1. INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERS
    Sapna Syngal; Fiscal Year: 2004
    ..Mutations in four mismatch repair genes (MSH2, MLH1, PMS1 and PMS2) have been identified primarily in families with hereditary nonpolyposis colorectal cancer (HNPCC) featuring high ..
  2. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
    ..products to other CFR sites for characterization of somatic MLH1 methylation\par and BRAF analysis, germline PMS2 and MYH mutations; 7) maintain local bioinformatics and data\par transmissions; 8) maintain necessary ..
  3. Understanding ceftazidime resistance in SHV B-Lactamases
    ROBERT BONOMO; Fiscal Year: 2009
    ..abstract_text> ..
  4. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    Janet Stavnezer; Fiscal Year: 2004
    ..group has recently determined that B cells from mice deficient in the mismatch repair (MMR) proteins, Msh2, Mlhl or Pms2, show a reduction in ability to undergo class switch recombination...
  5. Mammalian DNA Repair Proteins in Meiotic Recombination
    Paula Cohen; Fiscal Year: 2007
    ..Three of the four MutL homologs (MLH1, MLH3 and PMS2) that belong to this family are essential regulators of mammalian meiosis, with MLH 1 and MLH3 being the only ..
  6. LYMPHOMAGENESIS OF O6-METHYLGUANINE
    Stanton Gerson; Fiscal Year: 2002
    ..In the first Specific Aim, transgenic mice defective in one of two mismatch repair proteins, PMS2 or MSH2 will be treated with MNU and followed for induction of tumors...
  7. DNA Mismatch Repair and associated genes in suppression of GI adenomas and carcin
    STEVEN MONROE LIPKIN; Fiscal Year: 2010
    ..Briefly, mammalian MLH/PMS proteins heterodimerize to form three distinct complexes, MLH1/PMS1, MLH1/PMS2 and MLH1/MLH3. These complexes interact with MSH2/MSH6 and MSH2/MSH6 heterodimers...
  8. DNA replication, DNA repair and microsatellite stability
    Kristin Eckert; Fiscal Year: 2009
    ..The ex vivo shuttle vector system will be used in naturally occurring MLH1, PMS2, NBS1 and hMre11-defective lymphoblastoid cell lines, and in cells with gene expression down-regulated by antisense ..
  9. IMMUNITY IN TRANSGENIC MICE
    Erik Selsing; Fiscal Year: 2010
    ..If ? transgene translocations also do not involve AID then this would provide a convenient model system for genetic analyses of the sequences and proteins important for the IgH translocation process. ..
  10. IMMUNITY IN TRANSGENIC MICE
    Erik Selsing; Fiscal Year: 2007
    ..If ? transgene translocations also do not involve AID then this would provide a convenient model system for genetic analyses of the sequences and proteins important for the IgH translocation process. ..
  11. MISMATCH REPAIR PROTEIN, PMS2, AND GENETIC RECOMBINATION
    SEAN BAKER; Fiscal Year: 2002
    ..adapted from investigator's abstract: Male mice homozygous for a null mutation in the DNA mismatch repair gene, Pms2, are sterile and produce only abnormal spermatozoa...
  12. BACH1/FANCJ Checkpoint, Recombination, and Chemoresistance
    Sharon B Cantor; Fiscal Year: 2010
    ..Recently, we established that both MMR proteins of the MutL1 complex (MLH1/PMS2) and BACH1/FANCJ (BRCA1-associated C- terminal helicase/Fanconi Anemia complementation group J) are required for ..
  13. BACH1/FANCJ Checkpoint, Recombination, and Chemoresistance
    Sharon Cantor; Fiscal Year: 2007
    ..Recently, we established that both MMR proteins of the MutL1 complex (MLH1/PMS2) and BACH1/FANCJ (BRCA1-associated C- terminal helicase/Fanconi Anemia complementation group J) are required for ..
  14. MISMATCH REPAIR DEFECTS AND HUMAN TUMOR RADIOSENSITIZATI
    Timothy Kinsella; Fiscal Year: 2003
    Mutations or loss of expression of DNA mismatch repair (MMR) genes especially MLH1, MSH2 and PMS2) have been found with an increasing frequency in many types of sporadic human colon cancers, along with the causal relationship previously ..
  15. MOLECULAR ANALYSES OF MLH3 NULL MICE
    Steven Lipkin; Fiscal Year: 2003
    ..genes associated with microsatellite instability have previously been described: MLH1, MSH2, MSH3, MSH6, PMS1, and PMS2. Each one of these genes is associated with genetic susceptibility to cancer in humans (specifically, Hereditary ..
  16. MUTAGENESIS IN DNA MISMATCH REPAIR DEFICIENT MICE
    Peter Glazer; Fiscal Year: 2002
    ..mice, all carrying the XsupF shuttle vector, plus various combinations of alleles at the MMR loci, including PMS1, PMS2, MLH1, and MSH2. Each genotype will be compared for tissue-specific, age-related, and developmental differences...
  17. Links between Mismatch Repair and Replication
    Hernan Flores Rozas; Fiscal Year: 2005
    ..coli MutS protein, MSH2, MSH3 and MSH6. Three yeast homologs of E. coli MutL are required for MMR, MLH1, PMS1 (PMS2 in humans) and MLH3...