DNA methyltransferase 1
Ultimo aggiornamento 10 Apr 2023
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L DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.
Normal function
L DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.
DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to move (migrate) and connect with each other, and neuron survival.
Conditions referring to this gene or chromosome
Altri nomi
AIM
CXXC finger protein 9
CXXC-type zinc finger protein 9
CXXC9
DNA (cytosine-5)-methyltransferase 1
DNA (cytosine-5-)-methyltransferase 1
DNA methyltransferase HsaI
DNA MTase HsaI
DNMT
DNMT1_HUMAN
HSN1E
m.HsaI
MCMT
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Ulteriori letture e riferimenti
- DNA methyltransferase 1; MedlinePlus, National Library of Medicine.
- Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11.
- Kar S, Deb M, Sengupta D, Shilpi A, Parbin S, Torrisani J, Pradhan S, Patra S. An insight into the various regulatory mechanisms modulating human DNA methyltransferase 1 stability and function. Epigenetics. 2012 Sep;7(9):994-1007. doi: 10.4161/epi.21568. Epub 2012 Aug 16.
- Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium; Boycott KM, Warman-Chardon J, Sadikovic B. Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. eCollection 2016.
- Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 2013 Feb 26;80(9):824-8. doi: 10.1212/WNL.0b013e318284076d. Epub 2013 Jan 30.
- Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
- Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.
- Rajendran G, Shanmuganandam K, Bendre A, Muzumdar D, Goel A, Shiras A. Epigenetic regulation of DNA methyltransferases: DNMT1 and DNMT3B in gliomas. J Neurooncol. 2011 Sep;104(2):483-94. doi: 10.1007/s11060-010-0520-2. Epub 2011 Jan 13.
- Sun MY, Yang XX, Xu WW, Yao GY, Pan HZ, Li M. Association of DNMT1 and DNMT3B polymorphisms with breast cancer risk in Han Chinese women from South China. Genet Mol Res. 2012 Dec 17;11(4):4330-41. doi: 10.4238/2012.September.26.1.
- Sun Z, Wu Y, Ordog T, Baheti S, Nie J, Duan X, Hojo K, Kocher JP, Dyck PJ, Klein CJ. Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. Epigenetics. 2014 Aug;9(8):1184-93. doi: 10.4161/epi.29676. Epub 2014 Jul 7.
- Svedruzic ZM. Dnmt1 structure and function. Prog Mol Biol Transl Sci. 2011;101:221-54. doi: 10.1016/B978-0-12-387685-0.00006-8.
- Walker LA, Bourque P, Smith AM, Warman Chardon J. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration. Neuropsychology. 2017 Mar;31(3):292-303. doi: 10.1037/neu0000322. Epub 2016 Nov 21.
- Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9.
- Yang XX, He XQ, Li FX, Wu YS, Gao Y, Li M. Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the Southern Chinese population. Int J Mol Sci. 2012;13(7):8364-8378. doi: 10.3390/ijms13078364. Epub 2012 Jul 5.
- Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y, Yoshimura A, Takashima H. Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. J Peripher Nerv Syst. 2013 Mar;18(1):89-93. doi: 10.1111/jns5.12012.
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