An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
نویسندگان
چکیده
منابع مشابه
Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A.
Reactivation of fetal hemoglobin (HbF) in adults ameliorates the severity of the common β-globin disorders. The transcription factor BCL11A is a critical modulator of hemoglobin switching and HbF silencing, yet the molecular mechanism through which BCL11A coordinates the developmental switch is incompletely understood. Particularly, the identities of BCL11A cooperating protein complexes and the...
متن کاملBCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
A transition from fetal hemoglobin (HbF) to adult hemoglobin (HbA) normally occurs within a few months after birth. Increased production of HbF after this period of infancy ameliorates clinical symptoms of the major disorders of adult β-hemoglobin: β-thalassemia and sickle cell disease. The transcription factor BCL11A silences HbF and has been an attractive therapeutic target for increasing HbF...
متن کاملSimvastatin and t-butylhydroquinone suppress KLF1 and BCL11A gene expression and additively increase fetal hemoglobin in primary human erythroid cells.
UNLABELLED Although increased fetal hemoglobin (HbF) levels have proven benefit for people with β-hemoglobinopathies, all current HbF-inducing agents have limitations. We previously reported that drugs that activate the NRF2 antioxidant response signaling pathway increase HbF in primary human erythroid cells. In an attempt to increase HbF levels achieved with NRF2 activators, in the present stu...
متن کاملFetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.
To determine whether hemoglobin regulation is normal in diseases affecting beta-globin gene expression, globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/beta o-thalassemia (HPFH/beta o-thal). The HPFH defect is the Ghanian type II, with a deletion from psi beta 1 to at least 20 kb 3' to beta. The beta o-thal gene has the haplotype...
متن کاملFetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restr...
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ژورنال
عنوان ژورنال: Science
سال: 2013
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.1242088