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Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.

Xiuqin BaoYuanyi GaoZhongju WangYuhua YeDiyu ChenYangjin ZuoCunyou ZhaoXiangmin Xu
Published in: Clinical epigenetics (2024)
The mechanism that drives the switch from fetal to adult hemoglobin (Hb) provides a therapeutic target for β-thalassemia. We have previously identified that hypermethylation of transcription factor ERF promoter reactivated γ-globin expression. To uncover the mechanism underlying the hypermethylation of ERF promoter, we performed RNA sequencing in β 0 /β 0 -thalassemia patients and identified an upregulated long noncoding RNA (RP11-196G18.23) associated with HbF production. RP11-196G18.23 bound to the ERF promoter and recruited DNA methyltransferase 3A to promote DNA hypermethylation-mediated ERF downregulation, thereby ameliorating ERF-induced γ-globin inactivation. The identification of RP11-196G18.23 provides an epigenetic mechanism for the reactivation of fetal γ-globin expression for β-hemoglobinopathies.
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