A study published in the journal Science reveals that an erythroid enhancer of the BCL11A gene may be essential for determining fetal hemoglobin (HbF) levels. Researchers characterized common genetic variations in the BCL11A gene that were associated with elevated HbF levels, showing that these polymorphisms resided within a tissue- and developmental stage-specific enhancer. Genome engineering demonstrated that the enhancer is required for BCL11A expression within erythroid, but not within B-lymphoid cells. The BCL11A enhancer may serve as a potential genome-specific target to treat β-hemoglobinopathies.
1. Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre G, Orkin SH. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 2013;342: 253-7