GeneID: 365


Common Name: DNMT1 Type: Gene
Chromosome: 19 (NC_000019.10) Locus: NG_028016.3 (DNMT1)
HUGO Symbol: DNMT1 Full Name: DNA methyltransferase 1
Exons: 41 Introns: 40

DNMT1 is a DNA (cytosine-5)-methyltransferase responsible for maintaining the existing methylation patterns after DNA replication. It prefers hemimethylated over unmethylated DNA, that is, it adds a methyl group to the CpG on the unmethylated strand of DNA after DNA replication. Methylation of DNA is involved in epigenetic gene regulation. DNMT1 is a key corepressor component in the maintainance of fetal haemoglobin (HbF) silencing in primary human adult erythroid cells. It interacts with BCL11A, a key regulator of HbF silencing. It is also associated with the nuclear receptors TR2/TR4 and lysine-specific demethylase 1A (KDM1A/LSD1) to form the DRED complex, a known repressor of embryonic and fetal globin genes in adults. Epigenetic drugs such as 5-azacytidine inhibit the processive methylation of hemimethylated DNA after replication by targeting DNMT1, and have been shown to reverse globin gene silencing and to increase HbF expression in patients with both sickle cell anaemia and β-thalassaemia. Genetic variance in the bromo-adjacent homology domain (BAH1) of DNMT1 was implicated in high HbF production and thus a milder phenotype in β-thalassaemia.

Synonyms: AIM , DNMT , MCMT , CXXC9 , HSN1E , ADCADN , m.HsaI


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Publications / Origin

  1. Thein SL, Genetic association studies in β-hemoglobinopathies., Hematology Am Soc Hematol Educ Program, 2013(0), 354-61, 2013 PubMed
  2. Ginder GD, Epigenetic regulation of fetal globin gene expression in adult erythroid cells., Transl Res, 165(1), 115-25, 2015 PubMed
  3. Lavelle D, Engel JD, Saunthararajah Y, Fetal Hemoglobin Induction by Epigenetic Drugs., Semin. Hematol., 55(2), 60-67, 2018 PubMed
  4. Gong Y, Zhang X, Zhang Q, Zhang Y, Ye Y, Yu W, Shao C, Yan T, Huang J, Zhong J, Wang L, Li Y, Wang L, Xu X, A natural DNMT1 mutation elevates the fetal hemoglobin via epigenetic de-repression of γ-globin gene in β-thalassemia., Blood, 2020 PubMed
Created on 2020-03-27 11:18:00, Last reviewed on 2020-12-01 11:05:09 (Show full history)

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