An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
- 11 October 2013
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 342 (6155), 253-257
- https://doi.org/10.1126/science.1242088
Abstract
BCL11A Variants: Recent chromatin mapping data have suggested that trait-associated variants often mark regulatory DNA. However, there has been little rigorous experimental investigation of regulatory variation. Bauer et al. (p. 253 ; see the Perspective by Hardison and Blobel ) performed an in-depth study of the BCL11A fetal hemoglobin-associated locus. The trait-associated variants revealed a chromatin signature that enhanced erythroid development. The enhancer was required for erythroid expression of BCL11A and thus for globin gene expression.Keywords
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