Gabriella E. Martyn

TL;DR: It is found that the LRF/ZBTB7A transcription factor occupies fetal γ-globin genes and maintains the nucleosome density necessary for γ -globin gene silencing in adults, and that LRF confers its repressive activity through a NuRD repressor complex independent of the fetal globin repressor BCL11A.

TL;DR: It is found that the major fetal globin gene repressors BCL11A and ZBTB7A directly bound to the sites at –115 and –200 bp, respectively, and introduced of naturally occurring HPFH-associated mutations into erythroid cells by CRISPR–Cas9 disrupted repressor binding and raised γ-globin gene expression.

TL;DR: Recent discoveries in hemoglobin were summarized, focusing on the influence of genome editing technologies, including CRISPR-Cas9, and emerging gene therapy approaches.

TL;DR: The results indicate that introducing this single naturally occurring mutation leads to significantly boosted HbF levels, and it is demonstrated that the mutation creates a de novo binding site for the important erythroid gene activator Krüppel-like factor 1 (KLF1/erystroid KLF).

TL;DR: The mechanism by which the -113A>G HPFH mutation elevates fetal globin is revealed and the sensitivity of the Fetal globin promoter to point mutations that often disrupt repressor binding sites but here create a de novo site for an erythroid activator is demonstrated.