Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

DNA (Cytosine-5)-Methyltransferase 3A

Das DNMT3A-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 epigenetischen Modifikationen. Mutationen führen zum autosomal dominanten Tatton-Brown-Rahman-Syndrom.

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:

Tatton-Brown-Rahman-Syndrom
DNMT3A
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.

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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