Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

DNA (Cytosin-5)-Methyltransferase 1

Das DNMT1-Gen kodiert eine Methyltransferase, die für die Methylierung von CpG-Inseln der genomischen DNA verantwortlich ist. Dieses Enzym besitzt somit eine Bedeutung für die ontogenetische Ruhigstellung von Genen und die epigenetischen Modifikationen. Mutationen führen zu autosomal dominanten Erkrankungen wie der Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie und der Hereditäre sensorische Neuropathie Typ 1E.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
DNMT1
Hereditäre sensorische Neuropathie Typ 1E
DNMT1
Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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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5.

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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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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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25.

None (2000) The DNA methyltransferases of mammals.

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26.

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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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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35.

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

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36.

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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37.

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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38.

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

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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

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44.

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

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45.

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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46.

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

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47.

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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48.

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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49.

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

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50.

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

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51.

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

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52.

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

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53.

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

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54.

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

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55.

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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56.

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

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57.

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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58.

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

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59.

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

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60.

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

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61.

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

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62.

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

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63.

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

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64.

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

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65.

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

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66.

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

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67.

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

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