An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level-Reference-Cited by-同舟云学术

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

Published:2013-10-11 Issue:6155 Volume:342 Page:253-257
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Bauer Daniel E.¹²³,Kamran Sophia C.³⁴,Lessard Samuel⁵,Xu Jian¹³,Fujiwara Yuko¹,Lin Carrie¹,Shao Zhen¹,Canver Matthew C.³,Smith Elenoe C.¹,Pinello Luca⁶,Sabo Peter J.⁷⁸,Vierstra Jeff⁷⁸,Voit Richard A.⁹,Yuan Guo-Cheng⁶¹⁰,Porteus Matthew H.⁹,Stamatoyannopoulos John A.⁷⁸,Lettre Guillaume⁵,Orkin Stuart H.¹²³⁴

Affiliation:

1. Division of Hematology/Oncology, Boston Children’s Hospital, Boston, MA 02115, USA.

2. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

3. Harvard Medical School, Boston, MA 02115, USA.

4. Howard Hughes Medical Institute, Boston, MA 02115, USA.

5. Montreal Heart Institute and Université Montréal, Montreal, Quebec H1T 1C8, Canada.

6. Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

7. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

8. Department of Medicine, University of Washington, Seattle, WA 98195, USA.

9. Department of Pediatrics, Stanford University, Palo Alto, CA 94304, USA.

10. Harvard School of Public Health, Boston, MA 02115, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference54 articles.

1. Genomewide Association Studies and Common Disease — Realizing Clinical Utility

2. Mapping and analysis of chromatin state dynamics in nine human cell types

3. Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits

4. Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

5. Seventy-five genetic loci influencing the human red blood cell

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