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Article

A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia.

Blood - 25 Mar 2021

Gong Yi, Zhang Xinhua, Zhang Qianqian, Zhang Yanxia, Ye Yuhua, Yu Wenxia, Shao Congwen, Yan Tizhen, Huang Jin, Zhong Jianmei, Wang Li, Li Yaoyun, Wang Liren, Xu Xiangmin

Abstract excerpt

DNA methyltransferase 1 (DNMT1) is a major epigenetic regulator of the formation of large macromolecular complexes that repress human γ-globin expression by maintaining DNA methylation. However, very little is known about the association of DNMT1 variants with β-thalassemia phenotypes. We systematically investigated associations between variants in DNMT1 and phenotypes in 1142 β-thalassemia subjects and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33227819
DOI: 10.1182/blood.2020006425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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