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A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity

Buckland, Paul Robert, Coleman, Sharon Louise, Hoogendoorn, Bastiaan ORCID:, Guy, Carol, Smith, Susan Kaye and O'Donovan, Michael Conlon ORCID: 2003. A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity. Gene Expression 11 (5) , pp. 233-239. 10.3727/000000003783992225

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We have sought to obtain an unbiased estimate of the proportion of polymorphisms in promoters of human genes that have functional effects. We carried out polymorphism discovery on a randomly selected group of 51 gene promoters mapping to human chromosome 21 and successfully analyzed the effect on transcription of 38 of the sequence variants. To achieve this, a total of 53 different haplotypes from 20 promoters were cloned into a modified pGL3 luciferase reporter gene vector and were tested for their abilities to promote transcription in HEK293t and JEG-3 cells. Up to seven (18%) of the 38 tested variants altered transcription by 1.5-fold, confirming that a surprisingly high proportion of promoter region polymorphisms are likely to be functionally important. The functional variants were distributed across the promoters of CRYAA, IFNAR1, KCNJ15, NCAM2, IGSF5, and B3GALT5. Three of the genes (NCAM2, IFNAR1, and CRYAA) have been previously associated with human phenotypes and the polymorphisms we describe here may therefore play a role in those phenotypes.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: Cognizant Communication Corporation
ISSN: 1052-2166
Last Modified: 12 Dec 2022 08:55

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