A Melanesian alpha-thalassemia mutation suggests a novel mechanism for regulating gene expression

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Enhancer Elements, Genetic
  • Gene Expression Regulation*
  • Genetic Variation
  • Genome, Human
  • Globins / genetics*
  • Humans
  • Melanesia
  • Mutation*
  • Polymorphism, Single Nucleotide*
  • alpha-Thalassemia / genetics*

Substances

  • Globins