Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons

Exp Cell Res. 2006 Sep 10;312(15):2764-77. doi: 10.1016/j.yexcr.2006.05.003. Epub 2006 May 13.

Abstract

Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons. Using a polyclonal antibody against spartin to gain insight into the function of the endogenous molecule, we show that the endogenous molecule is present in two main isoforms of 85 kDa and 100 kDa, and 75 kDa and 85 kDa in human and murine, respectively, with restricted subcellular localization. Immunohistochemical studies on human and mouse embryo sections and in vitro cell studies indicate that spartin is likely to possess both nuclear and cytoplasmic functions. The nuclear expression of spartin closely mirrors that of the snRNP (small nuclear ribonucleoprotein) marker alpha-Sm, a component of the spliceosome. Spartin is also enriched at the centrosome within mitotic structures. Notably we show that spartin protein undergoes dynamic positional changes in differentiating human SH-SY5Y cells. In undifferentiated non-neuronal cells, spartin displays a nuclear and diffuse cytosolic profile, whereas spartin transiently accumulates in the trans-Golgi network and subsequently decorates discrete puncta along neurites in terminally differentiated neuroblastic cells. Investigation of these spartin-positive vesicles reveals that a large proportion colocalizes with the synaptic vesicle marker synaptotagmin. Spartin is also enriched in synaptic-like structures and in synaptic vesicle-enriched fraction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies / immunology
  • Antibodies / metabolism
  • Cell Cycle Proteins
  • Cell Line, Tumor
  • Cell Nucleus / metabolism
  • Centrosome / metabolism
  • Embryo, Mammalian / cytology
  • Embryo, Mammalian / metabolism
  • Golgi Apparatus / metabolism
  • Humans
  • Immunohistochemistry
  • Interphase
  • Mice
  • Mitosis
  • Mutation
  • Neurons / chemistry*
  • Neurons / cytology
  • Neurons / metabolism
  • Protein Isoforms / analysis
  • Protein Isoforms / metabolism
  • Proteins / analysis*
  • Proteins / genetics
  • Proteins / physiology*
  • Ribonucleoproteins, Small Nuclear / metabolism
  • Spastic Paraplegia, Hereditary / genetics
  • Synaptic Vesicles / metabolism

Substances

  • Antibodies
  • Cell Cycle Proteins
  • Protein Isoforms
  • Proteins
  • Ribonucleoproteins, Small Nuclear
  • SPART protein, human