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MSH2 |
Protein FULL name:
DNA mismatch repair protein Msh2 [Homo sapiens].
MSH2 (Homo sapiens) is product of expression of MSH2 gene.
Human diseases related to this protein:
- MUIR-TORRE SYNDROME (#158320 )
- LYNCH SYNDROME I (#120435 )
- MISMATCH REPAIR CANCER SYNDROME (#276300 )
- COLORECTAL CANCER (#114500 )
- ENDOMETRIAL CANCER (#608089 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 3 (+600258)
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (600678)
MSH2 is involved in:
MMR in Homo sapiens
- MutSalpha binds mismatch in heteroduplex DNA with nick 5' to mismatch in Homo sapiens
- MutSalpha interacts with MutLalpha on heteroduplex DNA with nick 5' to mismatch in Homo sapiens
- MutLalpha nicks heteroduplex DNA with nick 5' to mismatch in Homo sapiens
- MutSalpha binds mismatch in heteroduplex DNA with nick 3' to mismatch in Homo sapiens
- MutSalpha interacts with MutLalpha on heteroduplex DNA with nick 3' to mismatch in Homo sapiens
- MutLalpha nicks heteroduplex DNA with nick 3' to mismatch in Homo sapiens
Keywords:
FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2- MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis.
SUBUNIT: Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2- MSH3 (MutS beta). Both heterodimer form a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1- associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR. Interacts with BTBD12/SLX4; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases.
INTERACTION: Self; NbExp=1; IntAct=EBI-355888, EBI-355888; Q8IY92:BTBD12; NbExp=1; IntAct=EBI-355888, EBI-2370740; P39875:EXO1 (xeno); NbExp=1; IntAct=EBI-355888, EBI-6738; Q9UQ84-1:EXO1; NbExp=2; IntAct=EBI-355888, EBI-944694; P20585:MSH3; NbExp=1; IntAct=EBI-355888, EBI-1164205; P52701:MSH6; NbExp=1; IntAct=EBI-355888, EBI-395529; O75365:PTP4A3; NbExp=1; IntAct=EBI-355888, EBI-1043866;
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in MSH2 are the cause of hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPphenotype (also called Lynch syndrome). Most families with clinically recognized HNPhave mutations in either MLH1 or MSH2 genes. HNPis an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPis reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPoriginate within benign neoplastic polyps termed adenomas. Clinically, HNPis often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. MSH2 mutations may predispose to hematological malignancies and multiple cafe-au-lait spots.
DISEASE: Defects in MSH2 are a cause of Muir-Torre syndrome (MTS) [MIM:158320]. MTS is a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.
DISEASE: Defects in MSH2 are a cause of susceptibility to endometrial cancer [MIM:608089].
SIMILARITY: Belongs to the DNA mismatch repair mutS family.
SEQUENCE CAUTION: Sequence=AAC27930.1; Type=Frameshift; Positions=417; Note=The frameshift is caused by a single nucleotide deletion which is found in a HNPkindred;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
This protein can be a part of a given complexes:
| NCBI GenPept GI number(s): |
4557761 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | P43246 |
P43246 |
| PFAM: | - |
P43246 (Link - using uniprot id) |
| InterPro: | - |
P43246 (Link - using uniprot id) |
| CATH: | None | |
| SCOP: | None | |
| PDB: | - | - |
Protein sequence:
|
MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDA LLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRV EVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGV KMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECV LPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQDLNRLLKGKKG EQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYM KLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPL MDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAAN LQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKF QEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAA RDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVK FTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLA QLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAF IPNDVYFEKDKQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESA EVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDEL GRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNL HVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKALE LEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMS EENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT |
MSH2 (Homo sapiens) is able to recognize following damages:
MSH2 (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. | Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R | Cell Dec. 3, 1993 |
| Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. | Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, et al. | Cell Dec. 17, 1993 |
| The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. | Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R | Cell April 8, 1994 |
| Colon cancer and DNA repair: have mismatches met their match? | Jiricny J | Trends Genet May 1, 1994 |
| Purified human MSH2 protein binds to DNA containing mismatched nucleotides. | Fishel R, Ewel A, Lescoe MK | Cancer Res Nov. 1, 1994 |
| Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. | Mary JL, Bishop T, Kolodner R, Lipford JR, Kane M, Weber W, Torhorst J, Muller H, Spycher M, Scott RJ | Hum Mol Genet Nov. 1, 1994 |
| Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. | Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P | Genomics Dec. 1, 1994 |
| Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. | Wijnen J, Vasen H, Khan PM, Menko FH, van der Klift H, van Leeuwen C, van den Broek M, van Leeuwen-Cornelisse I, Nagengast F, Meijers-Heijboer A, et al. | Am J Hum Genet May 1, 1995 |
| CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. | Maliaka YK, Chudina AP, Belev NF, Alday P, Bochkov NP, Buerstedde JM | Hum Genet Jan. 1, 1996 |
| Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer. | Bubb VJ, Curtis LJ, Cunningham C, Dunlop MG, Carothers AD, Morris RG, White S, Bird CC, Wyllie AH | Oncogene June 20, 1996 |
| Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. | Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Onda A, Okumura Y, Kishi N, Iwama T, Mori T, Koike M, Ushio K, Chiba M, Nomizu S, Konishi F, Utsunomiya J, Miyaki M | Gastroenterology Aug. 1, 1996 |
| A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides. | Whitehouse A, Taylor GR, Deeble J, Phillips SE, Meredith DM, Markham AF | Biochem Biophys Res Commun Aug. 5, 1996 |
| Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. | Moslein G, Tester DJ, Lindor NM, Honchel R, Cunningham JM, French AJ, Halling KC, Schwab M, Goretzki P, Thibodeau SN | Hum Mol Genet Sept. 1, 1996 |
| Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | Han HJ, Yuan Y, Ku JL, Oh JH, Won YJ, Kang KJ, Kim KY, Kim S, Kim CY, Kim JP, Oh NG, Lee KH, Choe KJ, Nakamura Y, Park JG | J Natl Cancer Inst Sept. 18, 1996 |
| hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. | Acharya S, Wilson T, Gradia S, Kane MF, Guerrette S, Marsischky GT, Kolodner R, Fishel R | Proc Natl Acad Sci U S A Nov. 26, 1996 |
| Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. | Beck NE, Tomlinson IP, Homfray T, Frayling I, Hodgson SV, Harocopos C, Bodmer WF | Hum Genet Jan. 1, 1997 |
| Molecular basis of HNPCC: mutations of MMR genes. | Papadopoulos N, Lindblom A | Hum Mutat Jan. 1, 1997 |
| Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. | Wehner M, Buschhausen L, Lamberti C, Kruse R, Caspari R, Propping P, Friedl W | Hum Mutat Jan. 1, 1997 |
| Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. | Viel A, Genuardi M, Capozzi E, Leonardi F, Bellacosa A, Paravatou-Petsotas M, Pomponi MG, Fornasarig M, Percesepe A, Roncucci L, Tamassia MG, Benatti P, Ponz de Leon M, Valenti A, Covino M, Anti M, Foletto M, Boiocchi M, Neri G | Genes Chromosomes Cancer Feb. 1, 1997 |
| MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. | Wu Y, Nystrom-Lahti M, Osinga J, Looman MW, Peltomaki P, Aaltonen LA, de la Chapelle A, Hofstra RM, Buys CH | Genes Chromosomes Cancer April 1, 1997 |
| Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers. | Akiyama Y, Tsubouchi N, Yuasa Y | Biochem Biophys Res Commun July 18, 1997 |
| Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. | Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R | Am J Hum Genet Aug. 1, 1997 |
| Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. | Nakahara M, Yokozaki H, Yasui W, Dohi K, Tahara E | Cancer Epidemiol Biomarkers Prev Dec. 1, 1997 |
| Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. | Okamura S, Koyama K, Miyoshi Y, Monden M, Takami M | J Hum Genet Jan. 1, 1998 |
| Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. | Yuan Y, Han HJ, Zheng S, Park JG | Dis Colon Rectum April 1, 1998 |
| hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha. | Iaccarino I, Marra G, Palombo F, Jiricny J | EMBO J May 1, 1998 |
| Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. | Farrington SM, Lin-Goerke J, Ling J, Wang Y, Burczak JD, Robbins DJ, Dunlop MG | Am J Hum Genet Sept. 1, 1998 |
| Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. | Leung SY, Chan TL, Chung LP, Chan AS, Fan YW, Hung KN, Kwong WK, Ho JW, Yuen ST | Am J Pathol Oct. 1, 1998 |
| Human exonuclease I interacts with the mismatch repair protein hMSH2. | Schmutte C, Marinescu RC, Sadoff MM, Guerrette S, Overhauser J, Fishel R | Cancer Res Oct. 15, 1998 |
| MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility. | Liu T, Stathopoulos P, Lindblom P, Rubio C, Wasteson Arver B, Iselius L, Holmberg E, Gronberg H, Lindblom A | Eur J Cancer Nov. 1, 1998 |
| Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism. | Blackwell LJ, Martik D, Bjornson KP, Bjornson ES, Modrich P | J Biol Chem Nov. 27, 1998 |
| DNA-dependent activation of the hMutSalpha ATPase. | Blackwell LJ, Bjornson KP, Modrich P | J Biol Chem Nov. 27, 1998 |
| Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. | Genuardi M, Carrara S, Anti M, Ponz de Leon M, Viel A | Eur J Hum Genet Jan. 1, 1999 |
| Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. | Weber TK, Chin HM, Rodriguez-Bigas M, Keitz B, Gilligan R, O'Malley L, Urf E, Diba N, Pazik J, Petrelli NJ | JAMA Jan. 1, 1999 |
| Functional analysis of human MutSalpha and MutSbeta complexes in yeast. | Clark AB, Cook ME, Tran HT, Gordenin DA, Resnick MA, Kunkel TA | Nucleic Acids Res Jan. 1, 1999 |
| hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA. | Gradia S, Subramanian D, Wilson T, Acharya S, Makhov A, Griffith J, Fishel R | Mol Cell Jan. 1, 1999 |
| Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. | Heinimann K, Scott RJ, Buerstedde JM, Weber W, Siebold K, Attenhofer M, Muller H, Dobbie Z | Cancer June 15, 1999 |
| Mutator phenotypes of common polymorphisms and missense mutations in MSH2. | Drotschmann K, Clark AB, Kunkel TA | Curr Biol Aug. 26, 1999 |
| A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. | Yuan ZQ, Wong N, Foulkes WD, Alpert L, Manganaro F, Andreutti-Zaugg C, Iggo R, Anthony K, Hsieh E, Redston M, Pinsky L, Trifiro M, Gordon PH, Lasko D | J Med Genet Oct. 1, 1999 |
| The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch. | Gradia S, Acharya S, Fishel R | J Biol Chem Jan. 11, 2000 |
| Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. | Fidalgo P, Almeida MR, West S, Gaspar C, Maia L, Wijnen J, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J | Eur J Hum Genet Feb. 1, 2000 |
| Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. | Isidro G, Veiga I, Matos P, Almeida S, Bizarro S, Marshall B, Baptista M, Leite J, Regateiro F, Soares J, Castedo S, Boavida MG | Hum Mutat Feb. 1, 2000 |
| Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. | Nomura S, Sugano K, Kashiwabara H, Taniguchi T, Fukayama N, Fujita S, Akasu T, Moriya Y, Ohhigashi S, Kakizoe T, Sekiya T | Biochem Biophys Res Commun April 1, 2000 |
| BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. | Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J | Genes Dev April 15, 2000 |
| Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis. | Rasmussen LJ, Rasmussen M, Lee B, Rasmussen AK, Wilson DM 3rd, Nielsen FC, Bisgaard HC | Mutat Res June 1, 2000 |
| Population-based molecular detection of hereditary nonpolyposis colorectal cancer. | Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, Harkonen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Jarvinen H, Mecklin JP, Aaltonen LA, de la Chapelle A | J Clin Oncol June 1, 2000 |
| hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. | Kim JC, Kim HC, Roh SA, Koo KH, Lee DH, Yu CS, Lee JH, Kim TW, Lee HL, Beck NE, Bodmer WF | Cancer Detect Prev Jan. 1, 2001 |
| HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. | Jager AC, Rasmussen M, Bisgaard HC, Singh KK, Nielsen FC, Rasmussen LJ | Oncogene June 14, 2001 |
| The interaction of DNA mismatch repair proteins with human exonuclease I. | Schmutte C, Sadoff MM, Shim KS, Acharya S, Fishel R | J Biol Chem Aug. 31, 2001 |
| Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. | Ellison AR, Lofing J, Bitter GA | Hum Mol Genet Sept. 1, 2001 |
| Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? | Muller-Koch Y, Kopp R, Lohse P, Baretton G, Stoetzer A, Aust D, Daum J, Kerker B, Gross M, Dietmeier W, Holinski-Feder E | Eur J Med Res Nov. 20, 2001 |
| Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma. | Furukawa T, Konishi F, Shitoh K, Kojima M, Nagai H, Tsukamoto T | Cancer Jan. 15, 2002 |
| A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. | Whiteside D, McLeod R, Graham G, Steckley JL, Booth K, Somerville MJ, Andrew SE | Cancer Res Feb. 15, 2002 |
| Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. | Cravo M, Afonso AJ, Lage P, Albuquerque C, Maia L, Lacerda C, Fidalgo P, Chaves P, Cruz C, Nobre-Leitao C | Gut March 1, 2002 |
| Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. | Scartozzi M, Bianchi F, Rosati S, Galizia E, Antolini A, Loretelli C, Piga A, Bearzi I, Cellerino R, Porfiri E | J Clin Oncol March 1, 2002 |
| HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. | Heinen CD, Wilson T, Mazurek A, Berardini M, Butz C, Fishel R | Cancer Cell June 1, 2002 |
| Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. | Bisgaard ML, Jager AC, Myrhoj T, Bernstein I, Nielsen FC | Hum Mutat July 1, 2002 |
| Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer. | Ward R, Meldrum C, Williams R, Mokany E, Scott R, Turner J, Hawkins N, Burgess B, Groombridge C, Spigelman A | J Cancer Res Clin Oncol Aug. 1, 2002 |
| Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. | Kurzawski G, Suchy J, Kladny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Gozdz S, Niepsuj S, Slomski R, Plawski A, Lacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawien A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubinski J | J Med Genet Oct. 1, 2002 |
| Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. | Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH | Br J Cancer Oct. 7, 2002 |
| Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome. | Sun X, Zheng L, Shen B | Cancer Res Nov. 1, 2002 |
| Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. | Yamada K, Zhong X, Kanazawa S, Koike J, Tsujita K, Hemmi H | Oncol Rep Jan. 1, 2003 |
| Genetic analysis of familial colorectal cancer in Israeli Arabs. | Chen-Shtoyerman R, Theodor L, Harmati E, Friedman E, Dacka S, Kopelman Y, Sternberg A, Zarivach R, Bar-Meir S, Fireman Z | Hum Mutat April 1, 2003 |
| Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. | Bartosova Z, Fridrichova I, Bujalkova M, Wolf B, Ilencikova D, Krizan P, Hlavcak P, Palaj J, Lukac L, Lukacova M, Boor A, Haider R, Jiricny J, Nystrom-Lahti M, Marra G | Hum Mutat April 1, 2003 |
| Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. | Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R | Am J Hum Genet May 1, 2003 |
| Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. | Colombino M, Cossu A, Arba A, Manca A, Curci A, Avallone A, Comella G, Botti G, Scintu F, Amoruso M, D'Abbicco D, d'Agnessa MR, Spanu A, Tanda F, Palmieri G | Ann Oncol Oct. 1, 2003 |
| Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. | Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR | Hum Mutat Dec. 1, 2003 |
| MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. | Wang Y, Qin J | Proc Natl Acad Sci U S A Dec. 23, 2003 |
| Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA. | Nielsen FC, Jager AC, Lutzen A, Bundgaard JR, Rasmussen LJ | Oncogene Jan. 19, 2004 |
| Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. | Sun MH, Cai Q, Fu G, Ren S, Mo S, Xu Y, Ding C, Zhang T, Zhu X, Xu X, Min D, Cai S, Luo D, Shi Y, Shi D | Hum Genet March 1, 2004 |
| The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. | Yang Q, Zhang R, Wang XW, Linke SP, Sengupta S, Hickson ID, Pedrazzi G, Perrera C, Stagljar I, Littman SJ, Modrich P, Harris CC | Oncogene May 6, 2004 |
| RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. | Sharp A, Pichert G, Lucassen A, Eccles D | Hum Mutat Sept. 1, 2004 |
| BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. | Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espin E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomaki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr | J Med Genet Sept. 1, 2004 |
| The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J | Genome Res Oct. 1, 2004 |
| Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. | Shin YK, Heo SC, Shin JH, Hong SH, Ku JL, Yoo BC, Kim IJ, Park JG | Hum Mutat Oct. 1, 2004 |
| Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. | Yuan Y, Huang YQ, Cai SR, Song YM, Zheng S, Zhang SZ | Jpn J Clin Oncol Nov. 1, 2004 |
| hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation. | Hernandez-Pigeon H, Quillet-Mary A, Louat T, Schambourg A, Humbert O, Selves J, Salles B, Laurent G, Lautier D | J Mol Biol April 22, 2005 |
| Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer. | Otway R, Tetlow N, Hornby J, Doe WF, Kohonen-Coriah MR | Hum Genet May 1, 2005 |
| A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. | Baudi F, Fersini G, Lavecchia A, Terracciano R, Leone F, Quaresima B, Faniello MC, De Paola L, Doldo P, Cuda G, Costanzo F, Venuta S | Cancer Lett June 8, 2005 |
| Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. | Lee SC, Guo JY, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh BC | Clin Genet Aug. 1, 2005 |
| Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. | Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C | Eur J Hum Genet Aug. 1, 2005 |
| Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | Kurzawski G, Suchy J, Lener M, Klujszo-Grabowska E, Kladny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Gozdz S, Niepsuj S, Slomski R, Plawski A, Lacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawien A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubinski J | Clin Genet Feb. 1, 2006 |
| Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer. | Leonardis D | Hum Genet July 1, 2006 |
| The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer. | Seifert M, Reichrath J | J Mol Histol Sept. 1, 2006 |
| Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. | Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomaki P, Mangold E, de la Chapelle A, Greenblatt M, Nystrom M | Gastroenterology Nov. 1, 2006 |
| ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. | Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ | Science May 25, 2007 |
| Structure of the human MutSalpha DNA lesion recognition complex. | Warren JJ, Pohlhaus TJ, Changela A, Iyer RR, Modrich PL, Beese LS | Mol Cell May 25, 2007 |
| The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells. | Seifert M, Scherer SJ, Edelmann W, Bohm M, Meineke V, Lobrich M, Tilgen W, Reichrath J | J Invest Dermatol Feb. 1, 2008 |
| Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. | Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG | Hum Mutat March 1, 2008 |
| Mechanisms of pathogenicity in human MSH2 missense mutants. | Ollila S, Dermadi Bebek D, Jiricny J, Nystrom M | Hum Mutat Nov. 1, 2008 |
| MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. | Belvederesi L, Bianchi F, Galizia E, Loretelli C, Bracci R, Catalani R, Amati M, Cellerino R | Hum Mutat Nov. 1, 2008 |
| A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frebourg T, Tosi M | Hum Mutat Dec. 1, 2008 |
| Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. | Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW | Cell July 10, 2009 |
| Lysine acetylation targets protein complexes and co-regulates major cellular functions. | Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M | Science Aug. 14, 2009 |
Last modification of this entry: Nov. 11, 2010.
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