AI Article Synopsis
- Mutations in the SF3B1 gene, which plays a role in the spliceosome, are linked to worse outcomes in chronic lymphocytic leukemia (CLL), but the exact impact on disease progression isn't well understood.
- Researchers studied the gene expression and pathways in primary human CLL cells with SF3B1 mutations to see how these mutations affect cellular functions.
- The study revealed that SF3B1 mutations disrupt several key biological processes in CLL, such as DNA damage response, telomere maintenance, and Notch signaling, indicating that these mutations have a significant influence on disease-related pathways.
Article Abstract
Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic characterization of primary human CLL cells to identify transcripts and pathways affected by SF3B1 mutation. Splicing alterations, identified in the analysis of bulk cells, were confirmed in single SF3B1-mutated CLL cells and also found in cell lines ectopically expressing mutant SF3B1. SF3B1 mutation was found to dysregulate multiple cellular functions including DNA damage response, telomere maintenance, and Notch signaling (mediated through KLF8 upregulation, increased TERC and TERT expression, or altered splicing of DVL2 transcript, respectively). SF3B1 mutation leads to diverse changes in CLL-related pathways.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127278 | PMC |
| http://dx.doi.org/10.1016/j.ccell.2016.10.005 | DOI Listing |
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