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PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

Arnaud F Klein1, Mitsuru Ebihara, Christine Alexander

  • 1Laboratory of neurogenetics of motion, Centre d'excellence en neuromique de l'Université de Montréal, CRCHUM, Université de Montréal, Montréal, Canada.

Experimental Cell Research
|March 28, 2008
PubMed
Summary

Expansions in Poly(A) Binding Protein Nuclear 1 (PABPN1) cause OPMD. Large expansions cause nuclear PABPN1 accumulation and reduced cell survival, not intranuclear inclusions, suggesting a novel disease mechanism.

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Area of Science:

  • Molecular Biology
  • Cell Biology
  • Genetics

Background:

  • Poly(A) Binding Protein Nuclear 1 (PABPN1) mutations, specifically polyalanine tract expansions, are linked to autosomal dominant oculopharyngeal muscular dystrophy (OPMD).
  • In OPMD, PABPN1 forms intranuclear inclusions (INIs), unlike other polyalanine expansion diseases where proteins accumulate cytoplasmically.

Purpose of the Study:

  • To investigate how large polyalanine tract expansions or deletions affect PABPN1's subcellular localization.
  • To explore the potential role of the polyalanine tract in PABPN1's nucleo-cytoplasmic transport and OPMD pathogenesis.

Main Methods:

  • Expressing PABPN1 with varied polyalanine tract lengths (large expansions, deletions) in cellular models.
  • Analyzing subcellular localization using microscopy and assessing cell survival.

Main Results:

  • Large polyalanine expansions (>24 alanines) lead to PABPN1 accumulation in nuclear speckles (SFRS2-positive) and decreased cell survival.
  • These large expansions do not form INIs or cause cytoplasmic accumulation.
  • Deletion of the polyalanine tract results in aggregates that span the nuclear membrane, suggesting its role in transport.
  • Other proteins with polyalanine tracts do not co-aggregate with PABPN1 INIs.

Conclusions:

  • Large PABPN1 polyalanine expansions cause nuclear accumulation and cell death independently of INI formation.
  • The polyalanine tract is crucial for PABPN1's normal nucleo-cytoplasmic transport.
  • OPMD may involve a loss of PABPN1 function due to reduced availability, via a mechanism not dependent on INIs.