A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression.
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.
Li
Qiliang
Q
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. li111640@u.washington.edu
D004742:Enhancer Elements, Genetic; D005786:Gene Expression Regulation; D014644:Genetic Variation; D015894:Genome, Human; D005914:Globins / Q000235:genetics*; D006801:Humans; D008542:Melanesia; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017085:alpha-Thalassemia / Q000235:genetics*
D005914:Globins