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Updated: Jul 19, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression
1Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. li111640@u.washington.edu
Genome Biology
|November 2, 2006
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.
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