Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

DNA (Cytosin-5)-Methyltransferase 3B

Das DNMT3B-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 führt zum autosomal rzessiven Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen
DNMT3B
Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

Okano M et. al. (1998) Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases.

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12.

Okano M et. al. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

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13.

Yanagisawa Y et. al. (2002) The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

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14.

Kaneda M et. al. (2004) Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting.

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15.

Ooi SK et. al. (2007) DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA.

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16.

Fabbri M et. al. (2007) MicroRNA-29 family reverts aberrant methylation in lung cancer by targeting DNA methyltransferases 3A and 3B.

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17.

Carpenter NJ et. al. (1988) Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16.

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18.

Wijmenga C et. al. (1998) Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

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19.

Hansen RS et. al. (1999) The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

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20.

Xu GL et. al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

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21.

Wijmenga C et. al. (2000) Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

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22.

Hassan KM et. al. (2001) Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication.

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23.

Ehrlich M et. al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

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24.

Beaulieu N et. al. (2002) An essential role for DNA methyltransferase DNMT3B in cancer cell survival.

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25.

Shirohzu H et. al. (2002) Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

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26.

Bickmore WA et. al. (2003) Perturbations of chromatin structure in human genetic disease: recent advances.

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27.

None (2003) X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis.

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28.

Jiang YL et. al. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

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29.

Gopalakrishnan S et. al. (2009) DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions.

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30.

Gendrel AV et. al. (2012) Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

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31.

Torroglosa A et. al. (2014) Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system.

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