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Article: Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31

TitleIdentification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
Authors
Issue Date2001
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 2001, v. 78 n. 1-2, p. 7-11 How to Cite?
Abstract
Human chromosome 7q31 contains putative susceptibility loci for autism (AUTS1) and speech and language disorder (SPCH1). We report here the identification and characterization of a novel gene encoding cortactin-binding protein-2 (CORTBP2), which is located 45 kb telomeric to the cystic fibrosis transmembrane conductance regulator gene (CFTR) at 7q31.3. The full-length (5975-bp) gene was isolated and found to be composed of 23 exons encompassing 170 kb of DNA. In addition to being a positional candidate for AUTS1, CORTBP2 was expressed at highest levels in the brain, as shown by northern blot analysis. Subsequent mutation analysis of CORTBP2 in 90 autistic patients identified two polymorphisms, including a leucine to valine change caused by a T to G substitution in exon 15. However, comparison of allele frequencies between autistic and control populations (n = 96) showed no significant difference, suggesting that this variant is not a susceptibility factor for autism.
Persistent Identifierhttp://hdl.handle.net/10722/44368
ISSN
2013 Impact Factor: 2.793
ISI Accession Number ID
References

 

Author Affiliations
  1. Karl-Franzens-Universitat Graz
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto
DC FieldValueLanguage
dc.contributor.authorCheung, Jen_HK
dc.contributor.authorPetek, Een_HK
dc.contributor.authorNakabayashi, Ken_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorVincent, JBen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2007-09-12T03:52:13Z-
dc.date.available2007-09-12T03:52:13Z-
dc.date.issued2001en_HK
dc.identifier.citationGenomics, 2001, v. 78 n. 1-2, p. 7-11en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44368-
dc.description.abstractHuman chromosome 7q31 contains putative susceptibility loci for autism (AUTS1) and speech and language disorder (SPCH1). We report here the identification and characterization of a novel gene encoding cortactin-binding protein-2 (CORTBP2), which is located 45 kb telomeric to the cystic fibrosis transmembrane conductance regulator gene (CFTR) at 7q31.3. The full-length (5975-bp) gene was isolated and found to be composed of 23 exons encompassing 170 kb of DNA. In addition to being a positional candidate for AUTS1, CORTBP2 was expressed at highest levels in the brain, as shown by northern blot analysis. Subsequent mutation analysis of CORTBP2 in 90 autistic patients identified two polymorphisms, including a leucine to valine change caused by a T to G substitution in exon 15. However, comparison of allele frequencies between autistic and control populations (n = 96) showed no significant difference, suggesting that this variant is not a susceptibility factor for autism.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.meshCarrier proteins - geneticsen_HK
dc.subject.meshAutistic disorder - geneticsen_HK
dc.subject.meshNerve tissue proteins - geneticsen_HK
dc.subject.meshRna, messenger - genetics - metabolismen_HK
dc.titleIdentification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=78&issue=1-2&spage=7&epage=11&date=2001&atitle=Identification+of+the+human+cortactin-binding+protein-2+gene+from+the+autism+candidate+region+at+7q31en_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1006/geno.2001.6651en_HK
dc.identifier.pmid11707066en_HK
dc.identifier.scopuseid_2-s2.0-0034766845en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034766845&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume78en_HK
dc.identifier.issue1-2en_HK
dc.identifier.spage7en_HK
dc.identifier.epage11en_HK
dc.identifier.isiWOS:000172121700003-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCheung, J=7202072292en_HK
dc.identifier.scopusauthoridPetek, E=7004484674en_HK
dc.identifier.scopusauthoridNakabayashi, K=7101927819en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridVincent, JB=55421640400en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK

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