CUX2, a potential regulator of NCAM expression: Genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder
| Autor: | E. K. Franks, Michael Conlon O'Donovan, N. J. Jacobsen, Nicholas John Craddock, Michael John Owen, Gareth Elvidge |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Untranslated region Bipolar Disorder Cosegregation DNA Mutational Analysis Molecular Sequence Data Biology medicine.disease_cause Polymorphism Single Nucleotide Darier Disease Genetic linkage medicine Humans Coding region Genetic Predisposition to Disease Genetic Testing Bipolar disorder Neural Cell Adhesion Molecules Gene Genetics (clinical) Aged Family Health Homeodomain Proteins Genetics Mutation Chromosomes Human Pair 12 Base Sequence Middle Aged medicine.disease Gene Expression Regulation Case-Control Studies Female |
| Zdroj: | American Journal of Medical Genetics. 105:295-300 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1325 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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