一种美拉尼西亚α地中海贫血突变提示了一种调节基因表达的新机制。
A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression.
作者信息
Li Qiliang
机构信息
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
出版信息
Genome Biol. 2006;7(10):238. doi: 10.1186/gb-2006-7-10-238. Epub 2006 Oct 24.
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.
摘要
最近研究表明，一种遗传性疾病——α地中海贫血的美拉尼西亚变体，是由位于成人α珠蛋白基因及其增强子之间的单核苷酸多态性引起的。这一突变产生了一个新的启动子，这一发现为染色质环化促进基因调控机制提供了支持。
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