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Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R255-60.

Allele-specific gene expression differences in humans.

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  • 1Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK.


In the last decade, the search for the genetic origins of phenotypic variation has expanded beyond the non-synonymous variants which alter the amino acid sequence of the encoded protein, and many examples of sequence variants which alter gene expression have been found. Recently, using both traditional and novel technologies, a number of surveys have been carried out to examine the frequency with which cis-acting sequence variants or other cis-acting effects, alter gene expression either in vitro or in vivo. Microarray data have shown that the expression of many genes varies markedly between individuals and allele-specific expression studies have shown that the source of much of this variation appears to be cis-acting effects. A significant proportion of the variation may originate in gene promoter regions and a large number of sequence variants which have functional effect in vitro have been found. The evidence suggests that given a large enough population, most, if not all genes may have allele-specific expression differences in at least some individuals and finding the genetic origins of each of these and linking the former to a possible phenotype must be a major long term goal of the biomedical community.

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