title: CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder.
abstract: We have previously reported cosegregation of bipolar affective disorder and Darier disease, a dominant skin disorder with a neuropsychiatric component. The gene for Darier disease was mapped to chromosome 12q23-q24.1 and linkage studies have subsequently implicated this region as harboring a susceptibility gene for bipolar affective disorder. We have genomically characterized the human homologue of murine Cux-2, a neuronal-specific transcription factor potentially involved in the regulation of neural cell adhesion molecule expression that maps to this region. Also, in a panel of 15 unrelated bipolar patients from multiply affected families showing increased allele sharing at markers in the 12q23-q24.1 region, we performed mutational screening of the CUX2 coding sequence, and 5' untranslated region (5' UTR). Resulting sequence were analyzed in a large sample of bipolar patients (n = 218) and control subjects (n = 218). No evidence was found for the involvement of variants within the CUX2 coding, or 5' UTR sequence in producing susceptibility to bipolar disorder.
authors.affiliation: Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
authors.forename: N J
authors.initials: NJ
authors.lastname: Jacobsen
authors.forename: G
authors.initials: G
authors.lastname: Elvidge
authors.forename: E K
authors.initials: EK
authors.lastname: Franks
authors.forename: M C
authors.initials: MC
authors.lastname: O'Donovan
authors.forename: N
authors.initials: N
authors.lastname: Craddock
authors.forename: M J
authors.initials: MJ
authors.lastname: Owen
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D001714:Bipolar Disorder / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D019006:Neural Cell Adhesion Molecules / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: C101672:Cux2 protein, mouse; D018398:Homeodomain Proteins; D019006:Neural Cell Adhesion Molecules