Dimethyladenosine transferase 1, mitochondrial; Transcription factor B1, mitochondrial is a mitochondrial enzyme that in is encoded by the TFB1Mgene.[5][6][7]
TFB1M is a mitochondrial methyltransferase, which uses S-adenosyl methionine to dimethylate two highly conserved adenosine residues at the 3'-end of the mitochondrial 12S rRNA thereby regulating the assembly or stability of the small subunit of the mitochondrial ribosome.[6][8][9]
Additionally, TFB1M has been demonstrated to stimulate transcription from promoter templates in an in vitro system containing recombinant mitochondrial RNA polymerase and TFAM.[10] There are no experimental data demonstrating that this function occurs in vivo; the paralogous TFB2M is more specific for this role.[11]
^Metodiev MD; Lesko N; Park CB; Camara Y.; Shi Y.; Wibom R.; Hultenby K.; Gustafsson CM; Larsson NG. (Apr 2009). "Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome". Cell Metab. 9 (4): 386–97. doi:10.1016/j.cmet.2009.03.001. PMID19356719.
^Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID12068295. S2CID11164308.
Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID12068295. S2CID11164308.
Rantanen A, Gaspari M, Falkenberg M, et al. (2003). "Characterization of the mouse genes for mitochondrial transcription factors B1 and B2". Mamm. Genome. 14 (1): 1–6. doi:10.1007/s00335-002-2218-z. PMID12532263. S2CID25379746.
Bykhovskaya Y, Mengesha E, Wang D, et al. (2004). "Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation". Mol. Genet. Metab. 82 (1): 27–32. doi:10.1016/j.ymgme.2004.01.020. PMID15110318.