CUX2, a potential regulator of NCAM expression: Genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder

Jacobsen, Nick J. O., Elvidge, Gareth, Franks, Emily K. E., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2001. CUX2, a potential regulator of NCAM expression: Genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder. American Journal of Medical Genetics 105 (3) , pp. 295-300. 10.1002/ajmg.1325

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Liss
ISSN:	0148-7299
Last Modified:	27 Oct 2022 08:24
URI:	https://orca.cardiff.ac.uk/id/eprint/62178

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