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Article: Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
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TitleIdentification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
 
AuthorsCheung, J3 2
Petek, E1
Nakabayashi, K3 2
Tsui, LC3 2
Vincent, JB3 2
Scherer, SW3 2
 
Issue Date2001
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
CitationGenomics, 2001, v. 78 n. 1-2, p. 7-11 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.2001.6651
 
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.
 
ISSN0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
DOIhttp://dx.doi.org/10.1006/geno.2001.6651
 
ISI Accession Number IDWOS:000172121700003
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorCheung, J
 
dc.contributor.authorPetek, E
 
dc.contributor.authorNakabayashi, K
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorVincent, JB
 
dc.contributor.authorScherer, SW
 
dc.date.accessioned2007-09-12T03:52:13Z
 
dc.date.available2007-09-12T03:52:13Z
 
dc.date.issued2001
 
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.
 
dc.description.natureabstract
 
dc.identifier.citationGenomics, 2001, v. 78 n. 1-2, p. 7-11 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.2001.6651
 
dc.identifier.doihttp://dx.doi.org/10.1006/geno.2001.6651
 
dc.identifier.epage11
 
dc.identifier.isiWOS:000172121700003
 
dc.identifier.issn0888-7543
2012 Impact Factor: 3.01
2012 SCImago Journal Rankings: 1.280
 
dc.identifier.issue1-2
 
dc.identifier.openurl
 
dc.identifier.pmid11707066
 
dc.identifier.scopuseid_2-s2.0-0034766845
 
dc.identifier.spage7
 
dc.identifier.urihttp://hdl.handle.net/10722/44368
 
dc.identifier.volume78
 
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.meshChromosomes, human, pair 7 - genetics
 
dc.subject.meshCarrier proteins - genetics
 
dc.subject.meshAutistic disorder - genetics
 
dc.subject.meshNerve tissue proteins - genetics
 
dc.subject.meshRna, messenger - genetics - metabolism
 
dc.titleIdentification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
 
dc.typeArticle
 
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Author Affiliations
  1. Karl-Franzens-Universitat Graz
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto