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

Genome-wide association studies (GWAS) have ascertained numerous trait-associated common genetic variants, frequently localized to regulatory DNA. We find that common genetic variation at BCL11A associated with fetal hemoglobin (HbF) level lies in noncoding sequences decorated by an erythroid enhanc...

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Detalhes bibliográficos
Principais autores: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4018826/
https://ncbi.nlm.nih.gov/pubmed/24115442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1242088
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