DNMT3A : DNA methyltransferase 3 alpha
Description
The DNMT3A (DNA methyltransferase 3 alpha) is a protein-coding gene located on chromosome 2.
The DNMT3A gene encodes an enzyme called DNA methyltransferase 3 alpha, which is essential for DNA methylation. DNA methylation involves adding methyl groups to DNA molecules, particularly to cytosine nucleotides. This process plays a crucial role in various cellular functions, including gene silencing, regulating protein and fat metabolism, and controlling neurotransmitter processing. DNMT3A is particularly important for establishing methylation patterns during embryonic development and in early cells that can develop into more specialized cell types. In hematopoietic stem cells, DNMT3A establishes methylation patterns that guide the differentiation into various blood cell types.
DNMT3A is essential for establishing DNA methylation patterns during development. It works in concert with histone methylation, modifying DNA in a non-processive manner and methylating both CpG and non-CpG sites. DNMT3A preferentially methylates DNA linkers between nucleosomes and is inhibited by histone H1. It plays a role in imprinting, particularly in germ cells, and acts as a transcriptional corepressor for ZBTB18. DNMT3A is recruited to trimethylated Lys-36 of histone H3 (H3K36me3) sites and can repress transcription by recruiting HDAC activity. It also exhibits weak auto-methylation activity on Cys-710 in the absence of DNA.
DNMT3A is also known as DNMT3A2, HESJAS, M.HsaIIIA, TBRS.
Associated Diseases
- Tatton-Brown-Rahman syndrome
- Heyn-Sproul-Jackson syndrome
- Sporadic pheochromocytoma/secreting paraganglioma
- Leukemia, acute myeloid
- Cytogenetically normal acute myeloid leukemia
- DNMT3A overgrowth syndrome
- Systemic mastocytosis
