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Center for Nephrology and Metabolic Disorders
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DNA (cytosine-5)-methyltransferase 1

The DNMT1 gene encodes a methyltransferase that is responsible for methylation of CpG islet in genomic DNA. So this emzyme plays an important role in gene silicing during development and epigenetic modification. Mutations cause autosomal dominant disorders such as autosomal dominant cerebellar ataxia, deafness and narcolepsy and hereditary sensory neuropathy type 1E.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autosomal dominant cerebellar ataxia, deafness and narcolepsy
DNMT1
Hereditary sensory neuropathy type 1E
DNMT1
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

Yang AS et al. (2003) Comment on "Chromosomal instability and tumors promoted by DNA hypomethylation" and "Induction of tumors in nice by genomic hypomethylation".

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2.

Zhang Q et al. (2005) STAT3- and DNA methyltransferase 1-mediated epigenetic silencing of SHP-1 tyrosine phosphatase tumor suppressor gene in malignant T lymphocytes.

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3.

Veldic M et al. (2005) In psychosis, cortical interneurons overexpress DNA-methyltransferase 1.

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4.

Estève PO et al. (2005) Human maintenance DNA (cytosine-5)-methyltransferase and p53 modulate expression of p53-repressed promoters.

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5.

Kawasaki H et al. (2004) Induction of DNA methylation and gene silencing by short interfering RNAs in human cells.

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6.

Guo G et al. (2004) Mismatch repair genes identified using genetic screens in Blm-deficient embryonic stem cells.

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7.

Muromoto R et al. (2004) Physical and functional interactions between Daxx and DNA methyltransferase 1-associated protein, DMAP1.

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8.

Gaudet F et al. (2004) Dnmt1 expression in pre- and postimplantation embryogenesis and the maintenance of IAP silencing.

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9.

Veldic M et al. (2004) DNA-methyltransferase 1 mRNA is selectively overexpressed in telencephalic GABAergic interneurons of schizophrenia brains.

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10.

Viré E et al. (2006) The Polycomb group protein EZH2 directly controls DNA methylation.

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11.

Paz MF et al. (2003) Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases.

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12.

Gaudet F et al. (2003) Induction of tumors in mice by genomic hypomethylation.

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13.

Robert MF et al. (2003) DNMT1 is required to maintain CpG methylation and aberrant gene silencing in human cancer cells.

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14.

Kimura H et al. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1.

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15.

Kim GD et al. (2002) Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.

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16.

Trinh BN et al. (2002) DNA methyltransferase deficiency modifies cancer susceptibility in mice lacking DNA mismatch repair.

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17.

Rhee I et al. (2002) DNMT1 and DNMT3b cooperate to silence genes in human cancer cells.

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18.

Sharif J et al. (2007) The SRA protein Np95 mediates epigenetic inheritance by recruiting Dnmt1 to methylated DNA.

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19.

Di Ruscio A et al. (2013) DNMT1-interacting RNAs block gene-specific DNA methylation.

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20.

Nishiyama A et al. (2013) Uhrf1-dependent H3K23 ubiquitylation couples maintenance DNA methylation and replication.

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21.

Song J et al. (2012) Structure-based mechanistic insights into DNMT1-mediated maintenance DNA methylation.

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22.

Song J et al. (2011) Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation.

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23.

Sen GL et al. (2010) DNMT1 maintains progenitor function in self-renewing somatic tissue.

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24.

Hutnick LK et al. (2009) DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation.

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25.

El-Maarri O et al. (2009) A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.

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26.

Wang J et al. (2009) The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation.

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27.

Melberg A et al. (1995) Autosomal dominant cerebellar ataxia deafness and narcolepsy.

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28.

Gazin C et al. (2007) An elaborate pathway required for Ras-mediated epigenetic silencing.

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29.

Bostick M et al. (2007) UHRF1 plays a role in maintaining DNA methylation in mammalian cells.

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30.

Smallwood A et al. (2007) Functional cooperation between HP1 and DNMT1 mediates gene silencing.

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31.

Miller CA et al. (2007) Covalent modification of DNA regulates memory formation.

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32.

Chen T et al. (2007) Complete inactivation of DNMT1 leads to mitotic catastrophe in human cancer cells.

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33.

Spada F et al. (2007) DNMT1 but not its interaction with the replication machinery is required for maintenance of DNA methylation in human cells.

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34.

Galetzka D et al. (2007) Sex-specific windows for high mRNA expression of DNA methyltransferases 1 and 3A and methyl-CpG-binding domain proteins 2 and 4 in human fetal gonads.

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35.

Rouleau J et al. (1992) The mouse DNA methyltransferase 5'-region. A unique housekeeping gene promoter.

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36.

Chuang LS et al. (1997) Human DNA-(cytosine-5) methyltransferase-PCNA complex as a target for p21WAF1.

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37.

Yoder JA et al. (1996) New 5' regions of the murine and human genes for DNA (cytosine-5)-methyltransferase.

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38.

Tucker KL et al. (1996) Complementation of methylation deficiency in embryonic stem cells by a DNA methyltransferase minigene.

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39.

Bestor T et al. (1988) Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases.

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40.

el-Deiry WS et al. (1991) High expression of the DNA methyltransferase gene characterizes human neoplastic cells and progression stages of colon cancer.

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41.

None (1990) DNA methylation: evolution of a bacterial immune function into a regulator of gene expression and genome structure in higher eukaryotes.

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42.

Li E et al. (1992) Targeted mutation of the DNA methyltransferase gene results in embryonic lethality.

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43.

Yen RW et al. (1992) Isolation and characterization of the cDNA encoding human DNA methyltransferase.

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44.

Lee PP et al. (2001) A critical role for Dnmt1 and DNA methylation in T cell development, function, and survival.

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45.

Klein CJ et al. (2013) DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

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46.

Klein CJ et al. (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

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47.

Hojo K et al. (1999) Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.

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48.

Wright A et al. (1995) Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia.

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49.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

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50.

Winkelmann J et al. (2012) Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

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51.

Balada E et al. (2008) Transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in CD4+ T cells from patients with systemic lupus erythematosus.

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52.

Mertineit C et al. (1998) Sex-specific exons control DNA methyltransferase in mammalian germ cells.

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53.

Biniszkiewicz D et al. (2002) Dnmt1 overexpression causes genomic hypermethylation, loss of imprinting, and embryonic lethality.

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54.

Howell CY et al. (2001) Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene.

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55.

Guidotti A et al. (2000) Decrease in reelin and glutamic acid decarboxylase67 (GAD67) expression in schizophrenia and bipolar disorder: a postmortem brain study.

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56.

None (2000) The DNA methyltransferases of mammals.

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57.

Robertson KD et al. (2000) DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters.

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58.

Rountree MR et al. (2000) DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci.

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59.

Rhee I et al. (2000) CpG methylation is maintained in human cancer cells lacking DNMT1.

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60.

Bonfils C et al. (2000) Characterization of the human DNA methyltransferase splice variant Dnmt1b.

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61.

Bigey P et al. (2000) Transcriptional regulation of the human DNA Methyltransferase (dnmt1) gene.

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62.

Fuks F et al. (2000) DNA methyltransferase Dnmt1 associates with histone deacetylase activity.

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63.

Lyko F et al. (1999) Mammalian (cytosine-5) methyltransferases cause genomic DNA methylation and lethality in Drosophila.

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64.

Hsu DW et al. (1999) Two major forms of DNA (cytosine-5) methyltransferase in human somatic tissues.

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65.

Xie S et al. (1999) Cloning, expression and chromosome locations of the human DNMT3 gene family.

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66.

Robertson KD et al. (1999) The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

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67.

None (1997) Tying it all together: epigenetics, genetics, cell cycle, and cancer.

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68.

Orphanet article

Orphanet ID 270026 external link
69.

NCBI article

NCBI 1786 external link
70.

OMIM.ORG article

Omim 126375 external link
71.

Wikipedia article

Wikipedia EN (DNMT1) external link
Update: Aug. 14, 2020
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