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  DNMT3B Functions: Novel Insights From Human Disease

Gagliardi, M., Strazzullo, M., & Matarazzo, M. R. (2018). DNMT3B Functions: Novel Insights From Human Disease. FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 6: 140. doi:10.3389/fcell.2018.00140.

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 Urheber:
Gagliardi, Miriam1, 2, Autor           
Strazzullo, Maria2, Autor
Matarazzo, Maria R.2, Autor
Affiliations:
1Max Planck Institute of Psychiatry, Max Planck Society, ou_1607137              
2External Organizations, ou_persistent22              

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Schlagwörter: INTRAGENIC DNA METHYLATION; GENE-BODY METHYLATION; ICF SYNDROME; CPG ISLAND; HISTONE H3; NONCODING RNA; CANCER-CELLS; RISK; METHYLTRANSFERASE; POLYMORPHISMCell Biology; Developmental Biology; DNMT3B; DNA methylation; ICF syndrome; cancer; epigenetics; gene expression; human disease;
 Zusammenfassung: DNA methylation plays important roles in gene expression regulation and chromatin structure. Its proper establishment and maintenance are essential for mammalian development and cellular differentiation. DNMT3B is the major de novo DNA methyltransferase expressed and active during the early stage of embryonic development, including implantation. In addition to its well-known role to methylate centromeric, pericentromeric, and subtelomeric repeats, recent observations suggest that DNMT3B acts as the main enzyme methylating intragenic regions of active genes. Although largely studied, much remains unknown regarding how these specific patterns of de novo CpG methylation are established in mammalian cells, and which are the rules governing DNMT3B recruitment and activity. Latest evidence indicates that DNMT3B recruitment is regulated by numerous mechanisms including chromatin modifications, transcription levels, non-coding RNAs, and the presence of DNA-binding factors. DNA methylation abnormalities are a common mark of human diseases involving chromosomal and genomic instabilities, such as inherited disease and cancer. The autosomal recessive Immunodeficiency, Centromeric instability and Facial anomalies syndrome, type I (ICF-1), is associated to hypomorphic mutations in DNMT3B gene, while its altered expression has been correlated with the development of tumors. In both cases, this implies that abnormal DNA hypomethylation and hypermethylation patterns affect gene expression and genomic architecture contributing to the pathological states. We will provide an overview of the most recent research aimed at deciphering the molecular mechanisms by which DNMT3B abnormalities are associated with the onset and progression of these pathologies.

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Sprache(n): eng - English
 Datum: 2018
 Publikationsstatus: Online veröffentlicht
 Seiten: 9
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 Identifikatoren: ISI: 000455348800001
DOI: 10.3389/fcell.2018.00140
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Titel: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: AVENUE DU TRIBUNAL FEDERAL 34, LAUSANNE, CH-1015, SWITZERLAND : FRONTIERS MEDIA SA
Seiten: - Band / Heft: 6 Artikelnummer: 140 Start- / Endseite: - Identifikator: ISSN: 2296-634X