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- Publisher Website: 10.1006/geno.1997.4923
- Scopus: eid_2-s2.0-0030667669
- PMID: 9344666
- WOS: WOS:A1997YC79200023
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Article: PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
Title | PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7 |
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Authors | |
Issue Date | 1997 |
Publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno |
Citation | Genomics, 1997, v. 45 n. 2, p. 402-406 How to Cite? |
Abstract | The 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. |
Persistent Identifier | http://hdl.handle.net/10722/44321 |
ISSN | 2023 Impact Factor: 3.4 2023 SCImago Journal Rankings: 0.850 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Osborne, LR | en_HK |
dc.contributor.author | Herbrick, JA | en_HK |
dc.contributor.author | Greavette, T | en_HK |
dc.contributor.author | Heng, HHQ | en_HK |
dc.contributor.author | Tsui, LC | en_HK |
dc.contributor.author | Scherer, SW | en_HK |
dc.date.accessioned | 2007-09-12T03:51:21Z | - |
dc.date.available | 2007-09-12T03:51:21Z | - |
dc.date.issued | 1997 | en_HK |
dc.identifier.citation | Genomics, 1997, v. 45 n. 2, p. 402-406 | en_HK |
dc.identifier.issn | 0888-7543 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/44321 | - |
dc.description.abstract | The 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. | en_HK |
dc.language | eng | en_HK |
dc.publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno | en_HK |
dc.relation.ispartof | Genomics | en_HK |
dc.subject.mesh | Adenosinetriphosphatase | en_HK |
dc.subject.mesh | Chromosomes, human, pair 7 - genetics - ultrastr | en_HK |
dc.subject.mesh | DNA repair - genetics | en_HK |
dc.subject.mesh | DNA repair enzymes | en_HK |
dc.subject.mesh | DNA-binding proteins | en_HK |
dc.title | PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7 | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=45&issue=2&spage=402&epage=406&date=1997&atitle=PMS2-related+genes+flank+the+rearrangement+breakpoints+associated+with+Williams+syndrome+and+other+diseases+on+human+chromosome+7 | en_HK |
dc.identifier.email | Tsui, LC: tsuilc@hkucc.hku.hk | en_HK |
dc.identifier.authority | Tsui, LC=rp00058 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_HK |
dc.identifier.doi | 10.1006/geno.1997.4923 | en_HK |
dc.identifier.pmid | 9344666 | - |
dc.identifier.scopus | eid_2-s2.0-0030667669 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0030667669&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 45 | en_HK |
dc.identifier.issue | 2 | en_HK |
dc.identifier.spage | 402 | en_HK |
dc.identifier.epage | 406 | en_HK |
dc.identifier.isi | WOS:A1997YC79200023 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Osborne, LR=35369973100 | en_HK |
dc.identifier.scopusauthorid | Herbrick, JA=6602297751 | en_HK |
dc.identifier.scopusauthorid | Greavette, T=17834531900 | en_HK |
dc.identifier.scopusauthorid | Heng, HHQ=7005338076 | en_HK |
dc.identifier.scopusauthorid | Tsui, LC=7102754167 | en_HK |
dc.identifier.scopusauthorid | Scherer, SW=35374654500 | en_HK |
dc.identifier.issnl | 0888-7543 | - |