Aberrant phase separation drives membranous organelle remodeling and tumorigenesis

Mol Cell. 2025 May 1;85(9):1852-1867.e10. doi: 10.1016/j.molcel.2025.04.001. Epub 2025 Apr 23.

Abstract

Membrane remodeling is essential for numerous cellular functions. Although liquid-liquid phase separation (LLPS) of intrinsically disordered region (IDR)-rich proteins could drive dramatic membrane remodeling of artificial giant unilamellar vesicles, it remains elusive whether LLPS-mediated membrane-remodeling functions in live cells and what role it plays in specific bioprocesses. Here, we show that three IDR-rich integral transmembrane fusion proteins (MFPs), generated by chromosomal translocations, can lead to de novo remodeling of their located membranous organelles. Taking FUS-CREB3L2, prevalent in low-grade fibromyxoid sarcoma (LGFMS), as a proof of concept, we recorded super-resolution long-time imaging of endoplasmic reticulum (ER) remodeling dynamics as accumulating FUS-CREB3L2, meanwhile causing spontaneous ER stress to hijack the X-box-binding protein 1 (XBP1) pathway. We further reveal the underlying mechanisms of how FUS-CREB3L2 transduces its tumorigenic signals and aberrant LLPS effects from the ER membrane into the nucleus autonomously, which activates hundreds of LGFMS-specific genes de novo compared with CREB3L2, thus sufficiently reprogramming the cells into an LGFMS-like status.

Keywords: ER stress; FUS-CREB3L2; fusion proteins; membrane remodeling; phase separation; spontaneous regulated intramembrane proteolysis.

MeSH terms

  • Active Transport, Cell Nucleus
  • Animals
  • Carcinogenesis*
  • Cell Line, Tumor
  • Cell Proliferation
  • Cyclic AMP Response Element-Binding Protein / metabolism
  • DNA / metabolism
  • Endoplasmic Reticulum / metabolism
  • Endoplasmic Reticulum Stress
  • Gene Expression
  • Humans
  • Intracellular Membranes* / metabolism
  • Intracellular Membranes* / pathology
  • Intrinsically Disordered Proteins
  • Membrane Fusion Proteins / metabolism
  • Neoplasm Invasiveness
  • Organelles
  • Protein Interaction Maps
  • Proteolysis
  • RNA-Binding Protein FUS / metabolism
  • Sarcoma* / metabolism
  • Sarcoma* / pathology
  • Signal Transduction
  • Transcription, Genetic

Substances

  • Intrinsically Disordered Proteins
  • Membrane Fusion Proteins
  • FUS protein, human
  • CREBL2 protein, human
  • RNA-Binding Protein FUS
  • Cyclic AMP Response Element-Binding Protein
  • DNA