Article
A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression.
Genome biology - 1 Jan 2006
Li Qiliang
Abstract excerpt
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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