NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2gene.[1] Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.
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]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[15][22] Twenty eight tests were carried out on mutant mice and fourteen significant abnormalities were observed. Homozygous mutants were subviable and had decreased body weights, length of long bones and decreased circulating glucose levels, numerous abnormal body composition, X-ray imaging, eye morphology and haematology parameters; males also had a decreased grip strength, a short upturned snout, and abnormal indirect calorimetry and plasma chemistry parameters.[15] Males (but not females) were also infertile.[15]
In addition, heterozygote mutants displayed premature hair follicle exogen.[15]
↑Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG (June 2012). "Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome". J. Med. Genet. 49 (6): 380–5. doi:10.1136/jmedgenet-2011-100686. PMID22577224.
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 (2010). "Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer". Cancer Letters. 289 (1): 71–80. doi:10.1016/j.canlet.2009.08.004. PMID19740597.
