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Article: Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients

TitleRefinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients
Authors
KeywordsGenomic structure
Point mutation
STX1A
Williams syndrome
Issue Date2002
PublisherJohn Wiley & Sons, Inc.
Citation
American Journal Of Medical Genetics, 2002, v. 109 n. 2, p. 121-124 How to Cite?
AbstractWilliams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the presynaptic plasma membrane. In this study, we refine the complete genomic structure of the human STX1A gene by direct sequencing and primer walking of bacterial artificial chromosome (BAC) clones and show that STX1A contains at least 10 exons and 9 introns. The length of exons range from 27 bp to 138 bp and all splice sites conform to the GT-AG rule. Investigation of the STX1A gene sequence in five WS patients without detectable deletions did not identify any point mutations. Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype. © 2002 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/44369
ISSN
2003 Impact Factor: -999.999
2009 SCImago Journal Rankings: 1.100
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWu, YQen_HK
dc.contributor.authorBejjani, BAen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMandel, Aen_HK
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorShaffer, LGen_HK
dc.date.accessioned2007-09-12T03:52:14Z-
dc.date.available2007-09-12T03:52:14Z-
dc.date.issued2002en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, 2002, v. 109 n. 2, p. 121-124en_HK
dc.identifier.issn0148-7299en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44369-
dc.description.abstractWilliams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the presynaptic plasma membrane. In this study, we refine the complete genomic structure of the human STX1A gene by direct sequencing and primer walking of bacterial artificial chromosome (BAC) clones and show that STX1A contains at least 10 exons and 9 introns. The length of exons range from 27 bp to 138 bp and all splice sites conform to the GT-AG rule. Investigation of the STX1A gene sequence in five WS patients without detectable deletions did not identify any point mutations. Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype. © 2002 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc.en_HK
dc.relation.ispartofAmerican Journal of Medical Geneticsen_HK
dc.subjectGenomic structureen_HK
dc.subjectPoint mutationen_HK
dc.subjectSTX1Aen_HK
dc.subjectWilliams syndromeen_HK
dc.subject.meshWilliams syndromeen_HK
dc.subject.meshStx1aen_HK
dc.subject.meshGenomic structureen_HK
dc.subject.meshPoint mutationen_HK
dc.subject.meshAntigens, surface - geneticsen_HK
dc.titleRefinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0148-7299&volume=109&issue=2&spage=121&epage=124&date=2002&atitle=Refinement+of+the+genomic+structure+of+STX1A+and+mutation+analysis+in+nondeletion+Williams+syndrome+patientsen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1002/ajmg.10321en_HK
dc.identifier.pmid11977160en_HK
dc.identifier.pmcidPMC2893211-
dc.identifier.scopuseid_2-s2.0-0037156316en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037156316&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume109en_HK
dc.identifier.issue2en_HK
dc.identifier.spage121en_HK
dc.identifier.epage124en_HK
dc.identifier.isiWOS:000174966600006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWu, YQ=7406891685en_HK
dc.identifier.scopusauthoridBejjani, BA=7003548811en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMandel, A=7005727678en_HK
dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridShaffer, LG=7103378971en_HK

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