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Genome Biol. 2006;7(10):238. Epub 2006 Oct 24.

A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression.

Author information

  • Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. li111640@u.washington.edu

Abstract

A Melanesian variant of the genetic disease alpha-thalassemia has recently been shown to be due to a single-nucleotide polymorphism located between the adult alpha-globin genes and their enhancers. The finding that this mutation creates a novel promoter provides support for a mechanism of gene regulation by facilitated chromatin looping.

PMID:
17076879
[PubMed - indexed for MEDLINE]
PMCID:
PMC1794567
Free PMC Article

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