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, LC1 2
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
2011 Impact Factor: 3.019
2011 SCImago Journal Rankings: 0.452
DOIhttp://dx.doi.org/10.1006/geno.1997.4923
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 3.019
2011 SCImago Journal Rankings: 0.452
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
Author Affiliations
  1. University of Toronto
  2. Hospital for Sick Children, Toronto