Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

DNA (cytosine-5)-methyltransferase 3A

The DNMT3A 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 Tatton-Brown-Rahman syndrome.

Genetests:

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

Related Diseases:

Tatton-Brown-Rahman syndrome
DNMT3A
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

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.

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

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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.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

et. al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

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11.

Miller CA et. al. (2013) Genomic landscapes and clonality of de novo AML.

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12.

Brewin J et. al. (2013) Genomic landscapes and clonality of de novo AML.

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13.

Lei H et. al. (1996) De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells.

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14.

Baylin SB et. al. (1998) Alterations in DNA methylation: a fundamental aspect of neoplasia.

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15.

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

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16.

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

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17.

Chen T et. al. (2002) A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

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18.

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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19.

Weisenberger DJ et. al. (2002) Identification and characterization of alternatively spliced variants of DNA methyltransferase 3a in mammalian cells.

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20.

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

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21.

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

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22.

Jia D et. al. (2007) Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation.

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23.

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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24.

Wu H et. al. (2010) Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

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25.

Ley TJ et. al. (2010) DNMT3A mutations in acute myeloid leukemia.

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26.

Yan XJ et. al. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.

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27.

Walter MJ et. al. (2011) Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.

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28.

Smallwood SA et. al. (2011) Dynamic CpG island methylation landscape in oocytes and preimplantation embryos.

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29.

Oliveira AM et. al. (2012) Rescue of aging-associated decline in Dnmt3a2 expression restores cognitive abilities.

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30.

Shlush LI et. al. (2014) Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia.

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31.

Tatton-Brown K et. al. (2014) Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

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32.

Guo X et. al. (2015) Structural insight into autoinhibition and histone H3-induced activation of DNMT3A.

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Update: Sept. 26, 2018