Methylcytosine dioxygenase TET2
The TET2 gene at 4q24 codes for the pro-peptide of methylcytosine dioxygenase TET2 which modulates (decreases) DNA methylation. Mutations of this gene can drive clonal expansion of haematopoietic stem cells leading to associations with myelodysplastic syndrome, AML and other myeloproliferative disorders. Presence of such mutations in blood cells is also associated with the atherosclerosis of ageing, with all cause mortality, coronary heart disease and ischaemic stroke being increased.
Methylcytosine dioxygenase TET2, an iron and zinc containing enzyme catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). This is important in human transcriptional regulation. In addition to its role in DNA demethylation, it is also involved in enabling the transcription start sites of active genes.
- ↑ Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, Chambert K, Mick E, Neale BM, Fromer M, Purcell SM, Svantesson O, Landén M, Höglund M, Lehmann S, Gabriel SB, Moran JL, Lander ES, Sullivan PF, Sklar P, Grönberg H, Hultman CM, McCarroll SA. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. The New England journal of medicine. 2014 Dec 25; 371(26):2477-87.(Link to article – subscription may be required.)
- ↑ Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N, Chavez A, Higgins JM, Moltchanov V, Kuo FC, Kluk MJ, Henderson B, Kinnunen L, Koistinen HA, Ladenvall C, Getz G, Correa A, Banahan BF, Gabriel S, Kathiresan S, Stringham HM, McCarthy MI, Boehnke M, Tuomilehto J, Haiman C, Groop L, Atzmon G, Wilson JG, Neuberg D, Altshuler D, Ebert BL. Age-related clonal hematopoiesis associated with adverse outcomes. The New England journal of medicine. 2014 Dec 25; 371(26):2488-98.(Link to article – subscription may be required.)