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Application

DNMT3A/DNMT3L active human has been used in in vitro methylation assay and REMSA (RNA electrophoretic mobility shift assay) to study role of ecRNAs (extra coding RNAs) in DNA methylation.

Biochem/physiol Actions

DNMT3A (DNA (cytosine-5)-methyltransferase 3A) is a DNA methyltransferase. It is responsible for the methylation of the cytosine residue in 5′-C-phosphate-G-3′ (CpG) dinucleotides. DNMT3A plays a significant role in immunoregulation (adaptive as well as innate immune responses). It is also the most commonly mutated gene in hematologic malignancies. DNMT3A is a commonly mutated gene in acute myeloid leukemia and is responsible for an unfavorable prognosis. DNMT3L (DNA (cytosine-5)-methyltransferase 3-like) is mainly responsible for the stimulation of DNA methylation. It is a non-catalytic accessory factor. It helps the DNA methylation machinery to be placed on properly chromatinized DNA regions. It also helps the poorly methylated area, thereby providing uniform methylation patterns. Mutations in the DNMT3L gene might be associated with azoospermia susceptibility.

General description

The DNMT3A (DNA (cytosine-5)-methyltransferase 3A) gene is mapped to human chromosome 2p23. The encoded protein has 2 isoforms, DNMT3A1 and DNMT3A2. DNMT3A1 is widely expressed and DNMT3A2 is mainly present in embryonic stem cells (ovaries and testes).DNMT3L (DNA (cytosine-5)-methyltransferase 3-like) belongs to the Dnmt3 family. It is unable to methylate DNA. The protein has a cysteine-rich region containing a novel-type zinc finger domain. The gene is mapped to human chromosome 21q22.3.