Localization of a long-range cis-regulatory element of IL13 by allelic transcript ratio mapping.

Abstract:

: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.

journal_name

Genome Res

journal_title

Genome research

authors

Forton JT,Udalova IA,Campino S,Rockett KA,Hull J,Kwiatkowski DP

doi

10.1101/gr.5663007

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

82-7

issue

1

eissn

1088-9051

issn

1549-5469

pii

gr.5663007

journal_volume

17

pub_type

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