Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/51083
Campo DC Valoridioma
dc.contributor.authorMartín-López, Juana V.en_US
dc.contributor.authorBarrios, Ysamaren_US
dc.contributor.authorMedina-arana, Vicenteen_US
dc.contributor.authorAndújar, Miguelen_US
dc.contributor.authorLee, Sangheeen_US
dc.contributor.authorGu, Liyaen_US
dc.contributor.authorLi, Guo Minen_US
dc.contributor.authorRüschoff, Josefen_US
dc.contributor.authorSalido, Eduardoen_US
dc.contributor.authorFishel, Richarden_US
dc.date.accessioned2018-11-24T21:16:16Z-
dc.date.available2018-11-24T21:16:16Z-
dc.date.issued2012en_US
dc.identifier.issn0143-3334en_US
dc.identifier.urihttp://hdl.handle.net/10553/51083-
dc.description.abstractThe hMSH2(M688R) mismatch repair (MMR) gene mutation has been found in five large families from Tenerife, Spain, suggesting it is a Lynch syndrome or hereditary non-polyposis colorectal cancer (LS/HNPCC) founder mutation. In addition to classical LS/HNPCC tumors, these families present with a high incidence of central nervous system (CNS) tumors normally associated with Turcot or constitutional mismatch repair deficiency (CMMR-D) syndromes. Turcot and CMMR-D mutations may be biallelic, knocking out both copies of the MMR gene. The hMSH2(M688R) mutation is located in the ATP hydrolysis (ATPase) domain. We show that the hMSH2(M688R)–hMSH6 heterodimer binds to mismatched nucleotides but lacks normal ATP functions and inhibits MMR in vitro when mixed with the wild-type (WT) heterodimer. Another alteration that has been associated with LS/HNPCC, hMSH2(M688I)–hMSH6, displays no identifiable differences with the WT heterodimer. Interestingly, some extracolonic tumors from hMSH2(M688R) carriers may express hMSH2–hMSH6, yet display microsatellite instability (MSI). The functional analysis along with variability in tumor expression and the high incidence of CNS tumors suggests that hMSH2(M688R) may act as a dominant negative in some tissues, while the hMSH2(M688I ) is most likely a benign polymorphism.en_US
dc.languageengen_US
dc.relation.ispartofCarcinogenesisen_US
dc.sourceCarcinogenesis[ISSN 0143-3334],v. 33(9), p. 1647-1654 (Septiembre 2012)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320713 Oncologíaen_US
dc.subject.otherMutationen_US
dc.subject.otherPolymorphismen_US
dc.subject.otherCentral nervous system neoplasmsen_US
dc.subject.otherAdenosine triphosphatasesen_US
dc.subject.otherHereditary nonpolyposis colorectal neoplasmsen_US
dc.subject.otherDNAen_US
dc.subject.otherGenesen_US
dc.subject.otherHydrolysisen_US
dc.subject.otherNucleotidesen_US
dc.subject.otherNeoplasmsen_US
dc.subject.otherDominant-negative mutationen_US
dc.subject.otherBinding (molecular function)en_US
dc.subject.otherMismatchen_US
dc.titleThe hMSH2(M688R) lynch syndrome mutation may function as a dominant negativeen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1093/carcin/bgs199en_US
dc.identifier.scopus84865544805-
dc.contributor.authorscopusid56014330700-
dc.contributor.authorscopusid6701386278-
dc.contributor.authorscopusid22634838200-
dc.contributor.authorscopusid7004631953-
dc.contributor.authorscopusid55262161400-
dc.contributor.authorscopusid7202674270-
dc.contributor.authorscopusid7407056831-
dc.contributor.authorscopusid16146572500-
dc.contributor.authorscopusid14023538500-
dc.contributor.authorscopusid7006156442-
dc.description.lastpage1654en_US
dc.description.firstpage1647en_US
dc.relation.volume33en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages8en_US
dc.utils.revisionen_US
dc.date.coverdateSeptiembre 2012en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr2,876-
dc.description.jcr5,635-
dc.description.sjrqQ1-
dc.description.jcrqQ1-
dc.description.scieSCIE-
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.orcid0000-0002-4858-6915-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameAndujar Sanchez,Miguel-
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