DNMT3A

DNMT3A, also known as DNA methyltransferase 3α, has alternative names TBRS and HESJAS. DNMT3A is a member of the DNA methyltransferase family responsible for catalyzing de novo methylation of DNA, which involves adding a methyl group to the fifth carbon atom of cytosine in the DNA sequence. This process is crucial for gene expression regulation, embryonic development, imprinting, and X chromosome inactivation. The N-terminal PWWP domain of DNMT3A interacts with chromatin, regulating regions that can bind various transcription inhibitors, such as cofactor RP58, oncogene PML-RAR, or heterochromatin protein HP1B, and interacts with DNMT1 to activate histone deacetylase HDAC1, thereby promoting histone deacetylation and gene transcription repression. DNMT3A is closely associated with the initiation and progression of tumors; its genetic mutations can lead to abnormal methylation of genomic DNA, including reduced overall genomic DNA methylation levels, affecting gene expression and cellular function, and are closely linked to the development of various hematological disorders, including acute myeloid leukemia.