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Article: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

TitleMutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
Authors
Issue Date1993
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
Citation
Cell, 1993, v. 75 n. 6, p. 1215-1225 How to Cite?
Abstract
Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER + phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER + tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.
Persistent Identifierhttp://hdl.handle.net/10722/150699
ISSN
2013 Impact Factor: 33.116
ISI Accession Number ID

 

Author Affiliations
  1. Johns Hopkins University
  2. Eleanor Roosevelt Institute for Cancer Research
  3. National Human Genome Research Institute
  4. Helsingin Yliopisto
  5. Los Alamos National Laboratory
  6. Johns Hopkins Medicine
  7. University of Texas at San Antonio
  8. Fred Hutchinson Cancer Research Center
  9. Memorial University of Newfoundland
  10. School of Medicine, University of Auckland
  11. Creighton University
  12. U. de Genet. Molec. Humaine
  13. Johns Hopkins Bloomberg School of Public Health
DC FieldValueLanguage
dc.contributor.authorLeach, FSen_US
dc.contributor.authorNicolaides, NCen_US
dc.contributor.authorPapadopoulos, Nen_US
dc.contributor.authorLiu, Ben_US
dc.contributor.authorJen, Jen_US
dc.contributor.authorParsons, Ren_US
dc.contributor.authorPeltomaki, Pen_US
dc.contributor.authorSistonen, Pen_US
dc.contributor.authorAaltonen, LAen_US
dc.contributor.authorNystromLahti, Men_US
dc.contributor.authorGuan, XYen_US
dc.contributor.authorZhang, Jen_US
dc.contributor.authorMeltzer, PSen_US
dc.contributor.authorYu, JWen_US
dc.contributor.authorKao, FTen_US
dc.contributor.authorChen, DJen_US
dc.contributor.authorCerosaletti, KMen_US
dc.contributor.authorFournier, REKen_US
dc.contributor.authorTodd, Sen_US
dc.date.accessioned2012-06-26T06:08:57Z-
dc.date.available2012-06-26T06:08:57Z-
dc.date.issued1993en_US
dc.identifier.citationCell, 1993, v. 75 n. 6, p. 1215-1225en_US
dc.identifier.issn0092-8674en_US
dc.identifier.urihttp://hdl.handle.net/10722/150699-
dc.description.abstractRecent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER + phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER + tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.en_US
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cellen_US
dc.relation.ispartofCellen_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshBrain - Metabolismen_US
dc.subject.meshCell Lineen_US
dc.subject.meshChromosome Bandingen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 2en_US
dc.subject.meshColon - Metabolismen_US
dc.subject.meshColonic Neoplasms - Geneticsen_US
dc.subject.meshColorectal Neoplasms, Hereditary Nonpolyposis - Geneticsen_US
dc.subject.meshCricetinaeen_US
dc.subject.meshDna Primersen_US
dc.subject.meshDna Repair - Geneticsen_US
dc.subject.meshDna-Binding Proteinsen_US
dc.subject.meshFungal Proteins - Geneticsen_US
dc.subject.meshGene Libraryen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshHumansen_US
dc.subject.meshHybrid Cellsen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshMiceen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMuts Homolog 2 Proteinen_US
dc.subject.meshMutationen_US
dc.subject.meshOpen Reading Framesen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshProto-Oncogene Proteins - Geneticsen_US
dc.subject.meshRatsen_US
dc.subject.meshSaccharomyces Cerevisiae - Geneticsen_US
dc.subject.meshSaccharomyces Cerevisiae Proteinsen_US
dc.subject.meshSequence Homology, Amino Aciden_US
dc.titleMutations of a mutS homolog in hereditary nonpolyposis colorectal canceren_US
dc.typeArticleen_US
dc.identifier.emailGuan, XY:xyguan@hkucc.hku.hken_US
dc.identifier.authorityGuan, XY=rp00454en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/0092-8674(93)90330-Sen_US
dc.identifier.pmid8261515en_US
dc.identifier.scopuseid_2-s2.0-0027145633en_US
dc.identifier.volume75en_US
dc.identifier.issue6en_US
dc.identifier.spage1215en_US
dc.identifier.epage1225en_US
dc.identifier.isiWOS:A1993MM89300019-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLeach, FS=7005525864en_US
dc.identifier.scopusauthoridNicolaides, NC=7005963372en_US
dc.identifier.scopusauthoridPapadopoulos, N=35354006800en_US
dc.identifier.scopusauthoridLiu, B=36013061400en_US
dc.identifier.scopusauthoridJen, J=7101875673en_US
dc.identifier.scopusauthoridParsons, R=7202030696en_US
dc.identifier.scopusauthoridPeltomaki, P=7004975457en_US
dc.identifier.scopusauthoridSistonen, P=7007033495en_US
dc.identifier.scopusauthoridAaltonen, LA=7005845446en_US
dc.identifier.scopusauthoridNystromLahti, M=7003294318en_US
dc.identifier.scopusauthoridGuan, XY=7201463221en_US
dc.identifier.scopusauthoridZhang, J=8539085200en_US
dc.identifier.scopusauthoridMeltzer, PS=7102464641en_US
dc.identifier.scopusauthoridYu, JW=7405530888en_US
dc.identifier.scopusauthoridKao, FT=7006525127en_US
dc.identifier.scopusauthoridChen, DJ=7405450599en_US
dc.identifier.scopusauthoridCerosaletti, KM=6701800893en_US
dc.identifier.scopusauthoridFournier, REK=7103024675en_US
dc.identifier.scopusauthoridTodd, S=7102777100en_US

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