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Expression of N471D strumpellin leads to defects in the endolysosomal system

Song, Lin, Rijal, Ramesh, Karow, Malte, Stumpf, Maria, Hahn, Oliver, Park, Laura, Insall, Robert, Schröder, Rolf, Hofmann, Andreas, Clemen, Christoph S., Eichinger, Ludwig·2018·Disease Models & Mechanisms
DOI 10.1242/dmm.033449PMC PMC6177004
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Abstract

Hereditary spastic paraplegias (HSPs) are genetically diverse and clinically characterised by lower limb weakness and spasticity. The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott–Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). To investigate the molecular functions of wild-type (WT) and N417D Str, we generated Dictyostelium Str− cells and ectopically expressed StrWT-GFP or StrN471D-GFP in Str− and WT cells. Overexpression of both proteins apparently caused a defect in cell division, as we observed a clear increase in multinucleate cells. Real-time PCR analyses revealed no transcriptional changes in WASH complex subunits in Str− cells, but western blots showed a twofold decrease in the SWIP subunit. GFP-trap experiments in conjunction with mass-spectrometric analysis revealed many previously known, as well as new, Str-interacting proteins, and also proteins that no longer bind to StrN471D. At the cellular level, Str− cells displayed defects in cell growth, phagocytosis, macropinocytosis, exocytosis and lysosomal function. Expression of StrWT-GFP in Str− cells rescued all observed defects. In contrast, expression of StrN471D-GFP could not rescue lysosome morphology and exocytosis of indigestible material. Our results underscore a key role for the WASH complex and its core subunit, Str, in the endolysosomal system, and highlight the fundamental importance of the Str N471 residue for maintaining lysosome morphology and dynamics. Our data indicate that the SPG8-causing N471D mutation leads to a partial loss of Str function in the endolysosomal system. This article has an associated First Person interview with the first author of the paper.

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Metadata

Authors
Song, L., Rijal, R., Karow, M., Stumpf, M., Hahn, O., Park, L., Insall, R., Schröder, R., Hofmann, A., Clemen, C. S., & Eichinger, L.
Affiliations
  • Center for Biochemistry, Institute of Biochemistry I 1 , Medical Faculty , , 50931 Cologne , Germany
  • Max Planck Institute for Biology of Ageing 3 , Biological Mechanisms of Ageing , 50931 Cologne , Germany
  • CR-UK Beatson Institute, Institute of Cancer Sciences 4 , Glasgow University , Glasgow G12 8QQ , UK
  • Institute of Neuropathology, University Hospital Erlangen 5 , 91054 Erlangen , Germany
  • Eskitis Institute, Griffith University 6 Structural Chemistry Program , , N75 Don Young Road, Nathan, QLD 4111 , Australia
ORCID
Eichinger, Ludwig
Venue
Disease Models & Mechanisms
Publisher
The Company of Biologists
Published
2018-09-01
Volume
11
Issue
9
ISSN
  • 1754-8411
  • 1754-8403
DOI
10.1242/dmm.033449
PMC
PMC6177004
Cited by
15
References
5
Language
en
Licence
creativecommons.org/licenses/by/3.0 (vor, 735 d)
Funders
  • Deutsche Forschungsgemeinschaft (CL 381/3-2, EI 399/7-2, SCHR 562/9-2, CRC670/TP01)
  • Köln Fortune
  • China Scholarship Council (201408210133)

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