Histone-lysine N-methyltransferase SETMAR is an enzyme that in humans is encoded by the SETMARgene.[3][4][5][6]
Function
SETMAR contains a SET domain that confers its histone methyltransferase activity, on Lys-4 and Lys-36 of Histone H3, both of which are specific tags for epigenetic activation. It has been identified as a repair protein as it mediates dimethylation at Lys-36 at double-strand break locations, a signal enhancing NHEJ repair.[7][8]
Anthropoid primates, including humans, have a version of the protein fused to a Mariner/Tc1 transposase. This fusion region provides the DNA-binding abilities for the protein as well as some nuclease activity. The transposase activity is lost due to the presence of several inactivating mutations,[9] including the D610N mutation.[10][11] However, the domesticated transposase domain retains its ability to bind to the mariner repeat elements in the genome.[12][13][14][15] SETMAR has been found to affect the expression and splicing of genes close to or containing mariner repeat elements via its functions in histone methylation.[12][13][15] Both the SET, via its methyltransferase activity,[7][8][16] and the mariner, with its DNA-binding [17] and nuclease activities,[18][19][20][21][16] domains of SETMAR have been shown to act in non-homologous end joining (NHEJ) to repair DNA double strand breaks.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Robertson HM, Zumpano KL (December 1997). "Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome". Gene. 205 (1–2): 203–217. doi:10.1016/S0378-1119(97)00472-1. PMID9461395.
Berry R, Stevens TJ, Walter NA, Wilcox AS, Rubano T, Hopkins JA, et al. (August 1995). "Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map". Nature Genetics. 10 (4): 415–423. doi:10.1038/ng0895-415. PMID7670491. S2CID22277955.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID8619474.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
