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Article

An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.

Science (New York, N.Y.) - 11 Oct 2013

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

Abstract excerpt

Genome-wide association studies (GWASs) have ascertained numerous trait-associated common genetic variants, frequently localized to regulatory DNA. We found that common genetic variation at BCL11A associated with fetal hemoglobin (HbF) level lies in noncoding sequences decorated by an erythroid enhancer chromatin signature. Fine-mapping uncovers a motif-disrupting common variant associated with reduced...

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Share to Chromatin Immunoprecipitation
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythroid Cells

Share to Fetal Hemoglobin

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Share to Genetic Engineering

Share to Hemoglobinopathies

Share to Precursor Cells, B-Lymphoid

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Identifiers

PMID: 24115442
DOI: 10.1126/science.1242088
PMCID: PMC4018826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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