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

Qiliang Li

Author Affiliations

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA

Genome Biology 2006, 7:238  doi:10.1186/gb-2006-7-10-238

Published: 24 October 2006


A Melanesian variant of the genetic disease α-thalassemia has recently been shown to be due to a single-nucleotide polymorphism located between the adult α-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.