title: Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
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.
authors.affiliation: Department of Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Cheung
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: K
authors.initials: K
authors.lastname: Nakabayashi
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: J B
authors.initials: JB
authors.lastname: Vincent
authors.forename: S W
authors.initials: SW
authors.lastname: Scherer
mesh_terms: D000595:Amino Acid Sequence; D001321:Autistic Disorder / Q000235:genetics*; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: C442860:CTTNBP2 protein, human; D002352:Carrier Proteins; D018076:DNA, Complementary; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger