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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.
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2. |
Guo X et al. (2015) Structural insight into autoinhibition and histone H3-induced activation of DNMT3A.
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3. |
Oliveira AM et al. (2012) Rescue of aging-associated decline in Dnmt3a2 expression restores cognitive abilities.
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4. |
Smallwood SA et al. (2011) Dynamic CpG island methylation landscape in oocytes and preimplantation embryos.
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5. |
Yan XJ et al. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.
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6. |
Ley TJ et al. (2010) DNMT3A mutations in acute myeloid leukemia.
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7. |
Wu H et al. (2010) Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.
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8. |
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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9. |
Jia D et al. (2007) Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation.
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10. |
Ooi SK et al. (2007) DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA.
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11. |
Kaneda M et al. (2004) Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting.
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12. |
Weisenberger DJ et al. (2002) Identification and characterization of alternatively spliced variants of DNA methyltransferase 3a in mammalian cells.
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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. |
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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15. |
Okano M et al. (1998) Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases.
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16. |
Baylin SB et al. (1998) Alterations in DNA methylation: a fundamental aspect of neoplasia.
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17. |
Tatton-Brown K et al. (2014) Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
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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.
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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.
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20. |
Xie S et al. (1999) Cloning, expression and chromosome locations of the human DNMT3 gene family.
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21. |
Lyko F et al. (1999) Mammalian (cytosine-5) methyltransferases cause genomic DNA methylation and lethality in Drosophila.
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22. |
Kim GD et al. (2002) Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.
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23. |
Viré E et al. (2006) The Polycomb group protein EZH2 directly controls DNA methylation.
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24. |
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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25. |
Miller CA et al. (2007) Covalent modification of DNA regulates memory formation.
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26. |
et al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
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27. |
Miller CA et al. (2013) Genomic landscapes and clonality of de novo AML.
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28. |
Brewin J et al. (2013) Genomic landscapes and clonality of de novo AML.
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29. |
Shlush LI et al. (2014) Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia.
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30. |
Okano M et al. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
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31. |
Walter MJ et al. (2011) Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.
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32. |
Lei H et al. (1996) De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells.
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33. |
NCBI article
NCBI 1788
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34. |
OMIM.ORG article
Omim 602769
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35. |
Orphanet article
Orphanet ID 406016
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Update: 14. August 2020