| Autor: |
Tauchmann S; University Children's Hospital, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland., Schwaller J; University Children's Hospital, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland. |
| Jazyk: |
angličtina |
| Zdroj: |
Life (Basel, Switzerland) [Life (Basel)] 2021 Aug 25; Vol. 11 (9). Date of Electronic Publication: 2021 Aug 25. |
| DOI: |
10.3390/life11090877 |
| Abstrakt: |
Recurrent epigenomic alterations associated with multiple human pathologies have increased the interest in the nuclear receptor binding SET domain protein 1 (NSD1) lysine methyltransferase. Here, we review the current knowledge about the biochemistry, cellular function and role of NSD1 in human diseases. Several studies have shown that NSD1 controls gene expression by methylation of lysine 36 of histone 3 (H3K36me1/2) in a complex crosstalk with de novo DNA methylation. Inactivation in flies and mice revealed that NSD1 is essential for normal development and that it regulates multiple cell type-specific functions by interfering with transcriptional master regulators. In humans, putative loss of function NSD1 mutations characterize developmental syndromes, such as SOTOS, as well as cancer from different organs. In pediatric hematological malignancies, a recurrent chromosomal translocation forms a NUP98-NSD1 fusion with SET-dependent leukemogenic activity, which seems targetable by small molecule inhibitors. To treat or prevent diseases driven by aberrant NSD1 activity, future research will need to pinpoint the mechanistic correlation between the NSD1 gene dosage and/or mutational status with development, homeostasis, and malignant transformation. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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