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(Hypertension. 2008;52:623.)
© 2008 American Heart Association, Inc.

Editorial Commentaries

Promoting Regulatory Gene Variation in Sodium Reabsorption

Peter A. Doris

From the Center for Human Genetics, Brown Foundation Institute for Molecular Medicine for the Prevention of Human Disease, University of Texas HSC at Houston.

Correspondence to Peter A. Doris, Center for Human Genetics, Brown Foundation Institute for Molecular Medicine for the Prevention of Human Disease, University of Texas HSC at Houston, 1825 Pressler St, Houston, TX 77030. E-mail peter.a.doris@uth.tmc.edu

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Many genes in an individual genome exist as allelic variants with 1 dimorphic form inherited from each parent. Although these alleles share a common regulatory environment within the same nucleus, they do not necessarily respond to it in the same way. Variation in the promoter sequences of genes, most of which are single base substitutions, may alter the binding of transcription factors that regulate expression of the gene. The result is allelic expression, a condition in which the number of transcripts present that have been produced from 1 parental allele consistently differs from that produced from the other allele.

Allelic expression is garnering a great deal of interest in several fields. In evolutionary genetics there is a strong case to be made that the divergence of species relies more heavily on the evolution of regulatory rather than structural variation in genes.¹ However, in genomics we are beginning to understand that homeostasis is the output of gene networks and that variation in many genes can shift the state of a gene network and alter its capacity to achieve homeostasis in its regulated outputs.²

Amplifying interest in allelic expression is the fact that functional implications of genetic variation creating allelic expression extend beyond the statistical relationship between the variant and phenotype that is the usual output of population genetic studies. This contrasts with some well-established associations between gene variants and complex disease susceptibility, such as that between Alzheimer disease and the epsilon 4 allele of apolipoprotein E, for which no sufficient functional . . . [Full Text of this Article]

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