Cited by 656Hemoglobinopathies and Related DisordersGenomics and Chromatin DynamicsGenetic Associations and Epidemiology

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

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Bauer, Daniel E., Kamran, Sophia C., Lessard, Samuel, Xu, Jian, Fujiwara, Yuko, Lin, Carrie, Shao, Zhen, Canver, Matthew C., Smith, Elenoe C., Pinello, Luca, Sabo, Peter J., Vierstra, Jeff, Voit, Richard A., Yuan, Guo-Cheng, Porteus, Matthew H., Stamatoyannopoulos, John A., Lettre, Guillaume, Orkin, Stuart H.·2013·Science

DOI 10.1126/science.1242088PMC PMC4018826

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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.

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Authors: Bauer, D. E., Kamran, S. C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M. C., Smith, E. C., Pinello, L., Sabo, P. J., Vierstra, J., Voit, R. A., Yuan, G.-C., Porteus, M. H., Stamatoyannopoulos, J. A., Lettre, G., & Orkin, S. H.
Affiliations: Boston Children's Hospital (US)
Howard Hughes Medical Institute (US)
Montreal Heart Institute (CA)
Harvard University (US)
Dana-Farber Cancer Institute (US)
University of Washington (US)
Stanford University (US)
Corresponding author: Orkin, Stuart H.
ORCID: Bauer, Daniel E.
Kamran, Sophia C.
Lessard, Samuel
Xu, Jian
Fujiwara, Yuko
Shao, Zhen
Canver, Matthew C.
Smith, Elenoe C.
Pinello, Luca
Sabo, Peter J.
Vierstra, Jeff
Voit, Richard A.
Yuan, Guo-Cheng
Porteus, Matthew H.
Stamatoyannopoulos, John A.
Lettre, Guillaume
Orkin, Stuart H.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2013-10-11
Volume: 342
Issue: 6155
Pages: 253-257
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1242088
PMC: PMC4018826
OpenAlex: W2008989169
Semantic Scholar: 2845316815fa241ea105cf77d04cc6906bf4c64b
Cited by: 653
References: 54
Citations by year: 2026: 42 · 2025: 50 · 2024: 64 · 2023: 42 · 2022: 47 · 2021: 48 · 2020: 45 · 2019: 38 · 2018: 49 · 2017: 48 · 2016: 80 · 2015: 59 · 2014: 37 · 2013: 4
FWCI: 29.32
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Science (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Howard Hughes Medical Institute
Canadian Institutes of Health Research (123382)
National Heart, Lung, and Blood Institute (P01HL032262, R01HL032259)
National Human Genome Research Institute (U54HG007010, U54HG004594, R01HG005085)
National Institute of Diabetes and Digestive and Kidney Diseases (P30DK049216, K08DK093705)
Topics: Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: BCL11A, fetal hemoglobin, common genetic variants, transcription factor binding, fine mapping, erythroid cells, B cells, β-hemoglobinopathies, genome editing
MeSH terms: Animals, Carrier Proteins, Cells, Cultured, Chromatin, Chromosome Mapping, Enhancer Elements, Genetic, Fetal Hemoglobin, Gene Expression Regulation, Genetic Engineering, Hemoglobinopathies, Humans, Nuclear Proteins, Repressor Proteins, Transcription Factors, Genetic Variation, Gene Targeting, Erythroid Cells, Cell Line, Tumor, Chromatin Immunoprecipitation, Mice, Precursor Cells, B-Lymphoid, Genome-Wide Association Study

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

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