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Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia

Anney, Richard ORCID:, Rees, Mark I., Bryan, E., Spurlock, Gillian, Williams, Nigel Melville ORCID:, Norton, Nadine ORCID:, Williams, Hywel John ORCID:, Cardno, Alastair George, Zammit, Stanley ORCID:, Jones, S., Jones, G., Hoogendoorn, Bastiaan ORCID:, Smith, K. J., Hamshere, Marian Lindsay ORCID:, Coleman, Sharon Louise, Guy, Carol, O'Donovan, Michael Conlon ORCID:, Owen, Michael John ORCID: and Buckland, Paul Robert 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7 (5) , pp. 493-502. 10.1038/

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The dopamine D3 receptor gene (DRD3) is a candidate for a number of psychiatric conditions including schizophrenia, bipolar disorder and alcohol and drug abuse. Previous studies have reported associations between polymorphisms in DRD3 and these disorders, but these findings may have reflected linkage disequilibrium with pathogenic variants that are further upstream. We have isolated and sequenced approximately 9 kb of genomic sequence upstream of the human DRD3 translational start site. Using 5' RACE, we have identified within this region three additional exons and two putative promoter regions which show promoter activity in three different cell lines. A 5' UTR identified only in lymphoblasts is spread over three exons and is 353 bp long. A second 5' UTR, found in adult and fetal brain, lymphocytes, kidney and placenta is spread over two exons and is 516 bp long. A 260-bp sequence within this 9 kb corresponds to a previously reported EST, but corresponding mRNA could not be found in the tissues above. The EST, 5' UTRs and putative promoter regions have been analysed for polymorphisms, revealing 10 single nucleotide polymorphisms, seven of which were tested for association in a large sample of unrelated patients with schizophrenia and matched controls. No associations were observed with schizophrenia. In addition we failed to replicate previous findings of association with homozygosity of the Ser9Gly variant. The results from this study imply that neither the coding nor the regulatory region of DRD3 plays a major role in predisposition to schizophrenia.

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)
Uncontrolled Keywords: Polymorphism ; Schizophrenia ; DRD3; RACE; 5' UTR ; Bipolar disorder
Publisher: Nature Publishing Group
ISSN: 13594184
Related URLs:
Last Modified: 01 Dec 2022 09:46

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