DNA Methyltransferase 3 Beta
DNA (Cytosine-5-)-Methyltransferase 3 Beta
DNA (Cytosine-5)-Methyltransferase 3B
DNA Methyltransferase HsaIIIB
DNA MTase HsaIIIB
EC 2.1.1.37
M.HsaIIIB
DNA Cytosine-5--Methyltransferase 3 Beta
Dnmt3b
FSHD4
ICF1
ICF
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
Forensic Context
A study in human postmortem prefrontal cortex demonstrated that the DNMT3B protein was strongly up-regulated (2.4-fold) in antidepressant-free depressed suicide subjects compared to non-psychiatric controls [Smalheiser et al. DOI:10.1371/journal.pone.0033201]. This up-regulation was inversely correlated with the significant down-regulation of its validated regulatory microRNA, hsa-miR-148b, indicating a post-transcriptional regulatory mechanism associated with the pathogenesis of major depression and suicide.