Spliceosomal disruption of the non-canonical BAF complex in cancer

Nature. 2019 Oct;574(7778):432-436. doi: 10.1038/s41586-019-1646-9. Epub 2019 Oct 9.

Abstract

SF3B1 is the most commonly mutated RNA splicing factor in cancer1-4, but the mechanisms by which SF3B1 mutations promote malignancy are poorly understood. Here we integrated pan-cancer splicing analyses with a positive-enrichment CRISPR screen to prioritize splicing alterations that promote tumorigenesis. We report that diverse SF3B1 mutations converge on repression of BRD9, which is a core component of the recently described non-canonical BAF chromatin-remodelling complex that also contains GLTSCR1 and GLTSCR1L5-7. Mutant SF3B1 recognizes an aberrant, deep intronic branchpoint within BRD9 and thereby induces the inclusion of a poison exon that is derived from an endogenous retroviral element and subsequent degradation of BRD9 mRNA. Depletion of BRD9 causes the loss of non-canonical BAF at CTCF-associated loci and promotes melanomagenesis. BRD9 is a potent tumour suppressor in uveal melanoma, such that correcting mis-splicing of BRD9 in SF3B1-mutant cells using antisense oligonucleotides or CRISPR-directed mutagenesis suppresses tumour growth. Our results implicate the disruption of non-canonical BAF in the diverse cancer types that carry SF3B1 mutations and suggest a mechanism-based therapeutic approach for treating these malignancies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Cell Line, Tumor
  • Chromatin Assembly and Disassembly / genetics
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / metabolism*
  • Humans
  • Mice
  • Neoplasm Transplantation
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Phosphoproteins / metabolism
  • RNA Splicing Factors / metabolism
  • RNA Splicing*
  • Spliceosomes / genetics
  • Spliceosomes / metabolism*
  • Transcription Factors / metabolism

Substances

  • BRD9 protein, human
  • Chromosomal Proteins, Non-Histone
  • Phosphoproteins
  • RNA Splicing Factors
  • SF3B1 protein, human
  • Transcription Factors