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Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation

McGough, Ian J., Steinberg, Florian, Jia, Da, Barbuti, Peter A., McMillan, Kirsty J., Heesom, Kate J., Whone, Alan L., Caldwell, Maeve A., Billadeau, Daniel D., Rosen, Michael K., Cullen, Peter J.·2014·Current Biology
DOI 10.1016/j.cub.2014.06.024PMC PMC4110399
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  • The D620N mutation disrupts VPS35 binding to WASH complex proteins, affecting actin nucleation, while AD-linked VPS35 mutations (e.g., L625P) impair VPS35-VPS26-VPS29 assembly.

    “The D620N mutation disrupts VPS35 binding to WASH complex proteins, affecting actin nucleation, while AD-linked VPS35 mutations (e.g., L625P) impair VPS35-VPS26-VPS29 assembly [25, 34].”

    From Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer’s disease mouse model (2025) · cites this paper as [25]

    The Comparative Interactome Analysis and FAM21 In Vitro sections report reduced binding of VPS35(D620N) to the actin-nucleating WASH complex. They do not establish that actin nucleation itself was altered. The paper does not address the AD-linked L625P assembly claim; its heterotrimer result concerns D620N, which retains VPS26–VPS29 binding. (LLM, conf=0.85)

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Research works printed but not linked: 27

  1. Cullen, 2012, Sorting nexins provide diversity for retromer-dependent trafficking events, Nat. Cell Biol., 14, 29, 10.1038/ncb2374 · DOI · Paper page
  2. Vilariño-Güell, 2011, VPS35 mutations in Parkinson disease, Am. J. Hum. Genet., 89, 162, 10.1016/j.ajhg.2011.06.001 · DOI · Paper page
  3. Zimprich, 2011, A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease, Am. J. Hum. Genet., 89, 168, 10.1016/j.ajhg.2011.06.008 · DOI · Paper page
  4. Arighi, 2004, Role of the mammalian retromer in sorting of the cation-independent mannose 6-phosphate receptor, J. Cell Biol., 165, 123, 10.1083/jcb.200312055 · DOI · Paper page
  5. Carlton, 2004, Sorting nexin-1 mediates tubular endosome-to-TGN transport through coincidence sensing of high- curvature membranes and 3-phosphoinositides, Curr. Biol., 14, 1791, 10.1016/j.cub.2004.09.077 · DOI · Paper page
  6. Seaman, 2004, Cargo-selective endosomal sorting for retrieval to the Golgi requires retromer, J. Cell Biol., 165, 111, 10.1083/jcb.200312034 · DOI · Paper page
  7. Wassmer, 2009, The retromer coat complex coordinates endosomal sorting and dynein-mediated transport, with carrier recognition by the trans-Golgi network, Dev. Cell, 17, 110, 10.1016/j.devcel.2009.04.016 · DOI
  8. Steinberg, 2013, A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport, Nat. Cell Biol., 15, 461, 10.1038/ncb2721 · DOI · Paper page
  9. Wieman, 2009, An essential role for the Glut1 PDZ-binding motif in growth factor regulation of Glut1 degradation and trafficking, Biochem. J., 418, 345, 10.1042/BJ20081422 · DOI
  10. Follett, 2014, The Vps35 D620N mutation linked to Parkinson’s disease disrupts the cargo sorting function of retromer, Traffic, 15, 230, 10.1111/tra.12136 · DOI
  11. MacLeod, 2013, RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk, Neuron, 77, 425, 10.1016/j.neuron.2012.11.033 · DOI · Paper page
  12. Harbour, 2010, The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics, J. Cell Sci., 123, 3703, 10.1242/jcs.071472 · DOI · Paper page
  13. Derivery, 2009, The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex, Dev. Cell, 17, 712, 10.1016/j.devcel.2009.09.010 · DOI · Paper page
  14. Gomez, 2009, A FAM21-containing WASH complex regulates retromer-dependent sorting, Dev. Cell, 17, 699, 10.1016/j.devcel.2009.09.009 · DOI · Paper page
  15. Harbour, 2012, Recruitment of the endosomal WASH complex is mediated by the extended ‘tail’ of Fam21 binding to the retromer protein Vps35, Biochem. J., 442, 209, 10.1042/BJ20111761 · DOI · Paper page
  16. Jia, 2012, Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer, Mol. Biol. Cell, 23, 2352, 10.1091/mbc.e11-12-1059 · DOI · Paper page
  17. Hao, 2013, Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination, Cell, 152, 1051, 10.1016/j.cell.2013.01.051 · DOI
  18. Popoff, 2009, Analysis of articulation between clathrin and retromer in retrograde sorting on early endosomes, Traffic, 10, 1868, 10.1111/j.1600-0854.2009.00993.x · DOI
  19. Shi, 2009, Regulation of endosomal clathrin and retromer-mediated endosome to Golgi retrograde transport by the J-domain protein RME-8, EMBO J., 28, 3290, 10.1038/emboj.2009.272 · DOI
  20. Seaman, 2009, Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5, J. Cell Sci., 122, 2371, 10.1242/jcs.048686 · DOI · Paper page
  21. Girard, 2005, The DnaJ-domain protein RME-8 functions in endosomal trafficking, J. Biol. Chem., 280, 40135, 10.1074/jbc.M505036200 · DOI
  22. Hagemann, 2013, The serologically defined colon cancer antigen-3 interacts with the protein tyrosine phosphatase PTPN13 and is involved in the regulation of cytokinesis, Oncogene, 32, 4602, 10.1038/onc.2012.485 · DOI
  23. Bi, 2013, Pathogenic mutation in VPS35 impairs its protection against MPP(+) cytotoxicity, Int. J. Biol. Sci., 9, 149, 10.7150/ijbs.5617 · DOI
  24. Helfer, 2013, Endosomal recruitment of the WASH complex: active sequences and mutations impairing interaction with the retromer, Biol. Cell, 105, 191, 10.1111/boc.201200038 · DOI
  25. Valdmanis, 2007, Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia, Am. J. Hum. Genet., 80, 152, 10.1086/510782 · DOI · Paper page
  26. Vilariño-Güell, 2014, DNAJC13 mutations in Parkinson disease, Hum. Mol. Genet., 23, 1794, 10.1093/hmg/ddt570 · DOI
  27. Zavodszky, 2014, Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy, Nat Commun, 5, 3828, 10.1038/ncomms4828 · DOI · Paper page

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Metadata

Authors
McGough, I. J., Steinberg, F., Jia, D., Barbuti, P. A., McMillan, K. J., Heesom, K. J., Whone, A. L., Caldwell, M. A., Billadeau, D. D., Rosen, M. K., & Cullen, P. J.
Venue
Current Biology
Publisher
Elsevier BV
Published
2014-07
Volume
24
Issue
14
Pages
1670-1676
ISSN
0960-9822
DOI
10.1016/j.cub.2014.06.024
PMC
PMC4110399
Cited by
176
References
0
Language
en
Update notices
erratum (2014-07-21)
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