File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome

TitleIdentification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome
Authors
Issue Date1999
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1999, v. 57 n. 2, p. 279-284 How to Cite?
AbstractWilliams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of the disorder are known to be caused by haploinsufficiency for ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to reside within the WBS deletion, and here we report the identification and cloning of an additional gene that is commonly deleted. WBSCR11, which was identified through genomic DNA sequence analysis and cDNA library screening, was positioned toward the telomeric end of the WBS deletion. The gene is expressed in all adult tissues analyzed, including many regions of the brain. The predicted protein displays hemology to another gene from the WBS deletion, GTF2I, which is known to be a transcription factor. We postulate that WBSCR11 is also a transcription factor and may contribute to the spectrum of developmental symptoms found in WBS.
Persistent Identifierhttp://hdl.handle.net/10722/44350
ISSN
2015 Impact Factor: 2.386
2015 SCImago Journal Rankings: 1.281
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorCampbell, Ten_HK
dc.contributor.authorDaradich, Aen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:51:54Z-
dc.date.available2007-09-12T03:51:54Z-
dc.date.issued1999en_HK
dc.identifier.citationGenomics, 1999, v. 57 n. 2, p. 279-284en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44350-
dc.description.abstractWilliams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of the disorder are known to be caused by haploinsufficiency for ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to reside within the WBS deletion, and here we report the identification and cloning of an additional gene that is commonly deleted. WBSCR11, which was identified through genomic DNA sequence analysis and cDNA library screening, was positioned toward the telomeric end of the WBS deletion. The gene is expressed in all adult tissues analyzed, including many regions of the brain. The predicted protein displays hemology to another gene from the WBS deletion, GTF2I, which is known to be a transcription factor. We postulate that WBSCR11 is also a transcription factor and may contribute to the spectrum of developmental symptoms found in WBS.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshChromosomes, human, pair 7 - geneticsen_HK
dc.subject.meshDna - chemistry - geneticsen_HK
dc.subject.meshRna, messenger - genetics - metabolismen_HK
dc.subject.meshWilliams syndrome - geneticsen_HK
dc.subject.meshTranscription factors - geneticsen_HK
dc.titleIdentification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=57&issue=2&spage=279&epage=284&date=1999&atitle=Identification+of+a+putative+transcription+factor+gene+(WBSCR11)+that+is+commonly+deleted+in+Williams-Beuren+syndromeen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1006/geno.1999.5784en_HK
dc.identifier.pmid10198167-
dc.identifier.scopuseid_2-s2.0-0344603630en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0344603630&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume57en_HK
dc.identifier.issue2en_HK
dc.identifier.spage279en_HK
dc.identifier.epage284en_HK
dc.identifier.isiWOS:000079868900010-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridCampbell, T=7202584482en_HK
dc.identifier.scopusauthoridDaradich, A=6507653343en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats