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DNMTs in Epigenetics and Disease

DNA Methyltransferases (DNMTs) are a family of enzymes responsible for adding a methyl group (-CH3) to the 5-carbon position of cytosine bases, especially in CpG dinucleotides. This is a chemical modification known as DNA methylation. DNA methylation regulates gene expression, genomic stability, silences repetitive elements, cell differentiation and cell development. DNMTs control gene expression and preserve epigenetic memory.

 
Protein / Family Epigenetic Function Disease Association Key Publications Key Products
DNMT1 Maintains CpG methylation after DNA replication and ensures epigenetic inheritance Cancer (colon, breast, lung), neurological disorders Camacho et al., J. Clin. Med. 2025
DNMT3A Adds methyl groups to unmethylated CpGs, shaping early developmental epigenome AML, myelodysplastic syndromes, Tatton-Brown–Rahman syndrome Raj., Cell Stem Cell. 2025
DNMT3B Establishes methylation in pericentromeric and repetitive DNA regions ICF syndrome (Immunodeficiency, Centromeric instability, Facial anomalies), cancer Camacho et al., J. Clin. Med. 2025
DNMT3L Stimulates de novo methyltransferase complexes during germ cell development Germline methylation defects, infertility, imprinting disorders Lea, et al., Cell Stem Cell. 2025
G9a/EHMT2 Deposits H3K9me2, a mark that recruits DNMTs Cancer, developmental disorders Esteve et al., CHS Press. 2006
HDAC1/2 Promote chromatin compaction via histone deacetylation Cancer, neurodegeneration Cacan, PLOS ONE. 2014
MBD1 Reads methylated CpGs and recruits repressors Cancer, neurological disorders Liu et al., Science Direct. 2025
MBD2 Recruits NuRD complex to methylated promoters Cancer, inflammatory diseases Zhang et al., Cell Death Disc. 2025
MeCP2 Interprets methylation marks and regulates chromatin structure Rett syndrome; neurodevelopmental disorders Marques et al., Mol Psychiatry. 2025
PRMT5 Symmetric arginine methylation, recruits DNMT complexes Cancer Kaganovski et al., MDPI. 2025
SETDB1 Catalyzes H3K9me3, recruits DNMTs to silent regions Cancer, psychiatric disorders Peng et al., Betham Science. 2025
TET1 Oxidizes 5-mC and 5-hmC demethylation pathway Leukemia, gliomas Yang et al., BMC Mol. Cell Biol. 2025
TET2 Removes DNA methylation marks via iterative oxidation Myeloid malignancies Wu et al., Front. Endocinol. 2025
TET3 Essential for paternal genome demethylation after fertilization Neurodevelopmental disorders Sufiyna et al., J. Neuro-Oncol. 2025
UHRF1 Recognizes hemimethylated CpGs and histone marks (H3K9me3) to recruit DNMT1 Cancer (overexpression in many tumors) Kamel et al., Funct. Integr Genomics. 2025
UHRF2 Binds methylated DNA and ubiquitinated histones; regulates maintenance methylation Neurodegenerative disease (Alzheimer’s research focus), some cancers Bender et al., Nat. Commun. 2025  

 

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