A Melanesian α-thalassemia mutation suggests a novel mechanism for regulating gene expression
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
Genome Biology 2006, 7:238 doi:10.1186/gb-2006-7-10-238Published: 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.