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Mutations of RNA splicing factors in hematological malignancies

Girish C Shukla1, Jagjit Singh2

  • 1Department of Biological, Geo and Evs Sciences, Center for Gene Regulation in Health and Disease, Cleveland State Univesity, Cleveland, OH 44115, USA.

Cancer Letters
|September 11, 2017
PubMed

Insights

Cancer genomic studies reveal mutations in splicing factors drive cancer development. These alterations disrupt normal mRNA splicing, leading to aberrant forms and potentially promoting diseases like myelodysplastic syndromes (MDS).

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Large-scale cancer genomic studies have identified novel cancer-promoting genes.
  • These studies also revealed previously unknown cancer-promoting roles for housekeeping genes.
  • Significant mutations in genes crucial for nuclear precursor mRNA splicing have been discovered.

Purpose of the Study:

  • To review the function of splice factors in spliceosomal complex formation.
  • To explore potential mechanisms affecting authentic splice site recognition in cancer.
  • To highlight the role of splicing factor mutations in myelodysplastic syndromes (MDS).

Main Methods:

  • Review of findings from systematic large-scale cancer genomic studies.
  • Analysis of somatic mutations and copy number variations in splicing factors.
  • Focus on spliceosomal complexes and their role in mRNA splicing.

Main Results:

  • Somatic mutations and copy number variations in splicing factors are implicated in various cancers, notably MDS.
  • Mutated proteins interfere with splice site recognition.
  • This interference leads to the use of alternative splicing sites and the generation of aberrant mRNA isoforms.

Conclusions:

  • Alterations in splicing factors are significant in cancer development.
  • Dysregulated mRNA splicing contributes to oncogenesis.
  • Understanding these mechanisms may offer new therapeutic strategies for MDS and other cancers.
Keywords:
Hematological malignanciesRNA splicingSplicing mutationsU12-dependent introns

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