Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

It appears that, for many genes, the two alleles possessed by an individual may produce different amounts of transcript. When such allelic differences in transcription are observed for some individuals but not others, a plausible explanation is genetic variation in the cis-acting elements that regulate the gene in question. Here we describe a novel analytical approach that uses such observations, combined with genotyping data from the HapMap project, to define the genomic location of cis-acting regulatory elements. When applied to the human 5q31 chromosomal region, where complex regulatory mechanisms are known to exist, we demonstrate the sensitivity of this approach by locating a highly significant cis-regulatory element operating on IL13 at long range from a position 250 kb upstream from the gene (P = 2 x 10(-6)). As this method is unaffected by other sources of variation, such as environmental and trans-acting genetic factors, it provides a tractable approach for dissecting the complexities of genetic variation in gene regulation.

Original publication

DOI

10.1101/gr.5663007

Type

Journal article

Journal

Genome research

Publication Date

01/2007

Volume

17

Pages

82 - 87

Addresses

Department of Paediatrics, Oxford University, Oxford OX3 7BN, United Kingdom. julian.forton@paediatrics.ox.ac.uk

Keywords

B-Lymphocytes, Cell Line, Transformed, Chromosomes, Human, Pair 5, Humans, Interleukin-13, Chromosome Mapping, Haplotypes, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Alleles, Genome, Human, Regulatory Elements, Transcriptional