Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

DNA (cytosine-5)-methyltransferase 3B

The DNMT3B 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 recessive Immunodeficiency-centromeric instability-facial anomalies syndrome.

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
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

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

external link
2.

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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

Orphanet article

Orphanet ID 121150 external link
33.

NCBI article

NCBI 1789 external link
34.

OMIM.ORG article

Omim 602900 external link
35.

Wikipedia article

Wikipedia EN (DNMT3B) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues