NSUN2 explained

NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene.^[1] Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.

Function

The protein is a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA (Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA.^[1] NSUN2 is also localized on mitochondria and is capable of introducing post-transcriptional modifications in mitochondrial tRNAs.^{[2] [3]}

Clinical relevance

Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.^[4]

Further reading

• Frye M, Dragoni I, Chin SF, Spiteri I, Kurowski A, Provenzano E, Green A, Ellis IO, Grimmer D, Teschendorff A, Zouboulis CC, Caldas C, Watt FM . 6 . Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer . Cancer Letters . 289 . 1 . 71–80 . March 2010 . 19740597 . 10.1016/j.canlet.2009.08.004 .
• Hussain S, Benavente SB, Nascimento E, Dragoni I, Kurowski A, Gillich A, Humphreys P, Frye M . 6 . The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability . The Journal of Cell Biology . 186 . 1 . 27–40 . July 2009 . 19596847 . 2712989 . 10.1083/jcb.200810180 .
• Sakita-Suto S, Kanda A, Suzuki F, Sato S, Takata T, Tatsuka M . Aurora-B regulates RNA methyltransferase NSUN2 . Molecular Biology of the Cell . 18 . 3 . 1107–17 . March 2007 . 17215513 . 1805108 . 10.1091/mbc.E06-11-1021 .

Notes and References

1. Web site: NOP2/Sun domain family, member 2. 2011-12-04.
2. Shinoda S, Kitagawa S, Nakagawa S, Wei FY, Tomizawa K, Araki K, Araki M, Suzuki T, Suzuki T . 6 . Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs . Nucleic Acids Research . 47 . 16 . 8734–8745 . July 2019 . 31287866 . 10.1093/nar/gkz575 . 6895283 .
3. Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M . 6 . NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs . Nucleic Acids Research . 47 . 16 . 8720–8733 . July 2019 . 31276587 . 6822013 . 10.1093/nar/gkz559 .
4. Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG . 6 . Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome . Journal of Medical Genetics . 49 . 6 . 380–5 . June 2012 . 22577224 . 4771841 . 10.1136/jmedgenet-2011-100686 .