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Article: PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
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TitlePMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
 
AuthorsOsborne, LR2
Herbrick, JA2
Greavette, T2
Heng, HHQ2
Tsui, LC2 1
Scherer, SW2
 
Issue Date1997
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
CitationGenomics, 1997, v. 45 n. 2, p. 402-406 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4923
 
AbstractThe human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary non-polyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement break-points in Williams syndrome.
 
ISSN0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
DOIhttp://dx.doi.org/10.1006/geno.1997.4923
 
ISI Accession Number IDWOS:A1997YC79200023
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorOsborne, LR
 
dc.contributor.authorHerbrick, JA
 
dc.contributor.authorGreavette, T
 
dc.contributor.authorHeng, HHQ
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorScherer, SW
 
dc.date.accessioned2007-09-12T03:51:21Z
 
dc.date.available2007-09-12T03:51:21Z
 
dc.date.issued1997
 
dc.description.abstractThe human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary non-polyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement break-points in Williams syndrome.
 
dc.description.natureabstract
 
dc.identifier.citationGenomics, 1997, v. 45 n. 2, p. 402-406 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4923
 
dc.identifier.doihttp://dx.doi.org/10.1006/geno.1997.4923
 
dc.identifier.epage406
 
dc.identifier.isiWOS:A1997YC79200023
 
dc.identifier.issn0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid9344666
 
dc.identifier.scopuseid_2-s2.0-0030667669
 
dc.identifier.spage402
 
dc.identifier.urihttp://hdl.handle.net/10722/44321
 
dc.identifier.volume45
 
dc.languageeng
 
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
dc.publisher.placeUnited States
 
dc.relation.ispartofGenomics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdenosinetriphosphatase
 
dc.subject.meshChromosomes, human, pair 7 - genetics - ultrastr
 
dc.subject.meshDNA repair - genetics
 
dc.subject.meshDNA repair enzymes
 
dc.subject.meshDNA-binding proteins
 
dc.titlePMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
 
dc.typeArticle
 
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Author Affiliations
  1. University of Toronto
  2. Hospital for Sick Children University of Toronto