OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin

EMBO J. 2011 Oct 4;30(24):4970-85. doi: 10.1038/emboj.2011.354.

Abstract

Mutations in the phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P(2)) 5-phosphatase OCRL cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction. Previous studies have shown that OCRL interacts with components of the endosomal machinery; however, its role in endocytosis, and thus the pathogenic mechanisms of Lowe syndrome, have remained elusive. Here, we show that via its 5-phosphatase activity, OCRL controls early endosome (EE) function. OCRL depletion impairs the recycling of multiple classes of receptors, including megalin (which mediates protein reabsorption in the kidney) that are retained in engorged EEs. These trafficking defects are caused by ectopic accumulation of PtdIns4,5P(2) in EEs, which in turn induces an N-WASP-dependent increase in endosomal F-actin. Our data provide a molecular explanation for renal proximal tubular dysfunction in Lowe syndrome and highlight that tight control of PtdIns4,5P(2) and F-actin at the EEs is essential for exporting cargoes that transit this compartment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / metabolism*
  • Biological Transport
  • Catalysis
  • Cell Line
  • Endocytosis*
  • Endosomes / enzymology
  • Endosomes / metabolism*
  • Humans
  • Intracellular Membranes / metabolism
  • Kidney Tubules, Proximal / metabolism
  • Low Density Lipoprotein Receptor-Related Protein-2 / metabolism
  • Oculocerebrorenal Syndrome / genetics
  • Oculocerebrorenal Syndrome / metabolism
  • Phosphatidylinositol 4,5-Diphosphate / metabolism*
  • Phosphoric Monoester Hydrolases / genetics
  • Phosphoric Monoester Hydrolases / metabolism*
  • Polymerization

Substances

  • Actins
  • Low Density Lipoprotein Receptor-Related Protein-2
  • Phosphatidylinositol 4,5-Diphosphate
  • Phosphoric Monoester Hydrolases
  • OCRL protein, human