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An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
Open accessAbstract
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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“This enhancer consists of 3 DNase hypersensitive sites 162, 158, and 155 kb from the transcription initiation site.19”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [19]
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“Genomewide association studies have identified single-nucleotide polymorphisms (SNPs) associated with increased expression of fetal hemoglobin in adults.26”
From CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia (2021) · cites this paper as [26]
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“Functional variants of BCL11A are marked by single nucleotide polymorphisms (SNPs) in intron 2 that tag an erythroid-specific enhancer.19”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [19]
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“The sentinel SNP marking this QTL is rs1427407.”
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716
Self-citationMapping and analysis of chromatin state dynamics in nine human cell types
Ernst, J., Kheradpour, P., Mikkelsen, T. S., Shoresh, N., Ward, L. D., Epstein, C. B., Zhang, X., Wang, L., Issner, R., Coyne, M., et al. (2011) · Nature · doi:10.1038/nature09906 · Cited by 2,898
The accessible chromatin landscape of the human genome
Thurman, R. E., Rynes, E., Humbert, R., Vierstra, J., Maurano, M. T., Haugen, E., Sheffield, N. C., Stergachis, A. B., Wang, H., Vernot, B., et al. (2012) · Nature · doi:10.1038/nature11232 · Cited by 2,679
Self-citationRare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,373
Genome editing with engineered zinc finger nucleases
Urnov, F. D., Rebar, E. J., Holmes, M. C., Zhang, H. S., & Gregory, P. D. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2842 · Cited by 2,285
A TALE nuclease architecture for efficient genome editing
Miller, J. C., Tan, S., Qiao, G., Barlow, K. A., Wang, J., Xia, D. F., Meng, X., Paschon, D. E., Leung, E., Hinkley, S. J., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.1755 · Cited by 2,098
Čermák, T., Doyle, E., Christian, M. L., Wang, L., Zhang, Y., Schmidt, C. L., Baller, J. A., Somia, N. V., Bogdanove, A. J., & Voytas, D. F. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr218 · Cited by 2,034
TALENs: A widely applicable technology for targeted genome editing
Joung, J. K., & Sander, J. D. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3486 · Cited by 1,650
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Canver, M. C., Smith, E. C., Sher, F., Pinello, L., Sanjana, N. E., Shalem, O., Chen, D. D., Schupp, P. G., Vinjamur, D. S., Garcia, S. P., et al. (2015) · Nature · doi:10.1038/nature15521 · Cited by 886
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Non-coding genetic variants in human disease: Figure 1.
Zhang, F., & Lupski, J. R. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv259 · Cited by 619
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Metadata
- 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
- Venue
- Science
- Published
- 2013-10-11
- Volume
- 342
- Issue
- 6155
- Pages
- 253-257
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- 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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