Mammalian Genome

, Volume 11, Issue 9, pp 763–766

Organization of the human synphilin-1 gene, a candidate for Parkinson's disease

  • Simone  Engelender
  • Tracy  Wanner
  • John J.  Kleiderlein
  • Koichi  Wakabayashi
  • Shoji  Tsuji
  • Hitoshi  Takahashi
  • Roxann  Ashworth
  • Russell L.  Margolis
  • Christopher A.  Ross
Article

DOI: 10.1007/s003350010123

Cite this article as:
Engelender, S., Wanner, T., Kleiderlein, J. et al. Mammalian Genome (2000) 11: 763. doi:10.1007/s003350010123
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Abstract

We have recently identified a protein we called synphilin-1, which interacts in vivo with alpha-synuclein. Mutations in alpha-synuclein cause familial Parkinson's disease (PD). Alpha-synuclein protein is present in the pathologic lesions of familial and sporadic PD, and diffuse Lewy body disease, indicating an important pathogenic role for alpha-synuclein. Here we describe the structure of the human synphilin-1 gene (SNCAIP). The open reading frame of this gene is contained within ten exons. We have designed primers to amplify each SNCAIP exon, so these primers can now be used to screen for mutations or polymorphisms in patients with Parkinson's disease or related diseases. We found a highly polymorphic GT repeat within intron 5 of SNCAIP, suitable for linkage analysis of families with PD. We have mapped SNCAIP locus to Chromosome (Chr) 5q23.1-23.3 near markers WI-4673 and AFMB352XH5. In addition, using immunohistochemistry in human postmortem brain tissue, we found that synphilin-1 protein is present in neuropil, similar to alpha-synuclein protein. Because of its association with alpha-synuclein, synphilin-1 may be a candidate for involvement in Parkinson's disease or other related disorders.

Copyright information

© Springer-Verlag New York Inc. 2000

Authors and Affiliations

  • Simone  Engelender
    • 1
  • Tracy  Wanner
    • 1
  • John J.  Kleiderlein
    • 1
  • Koichi  Wakabayashi
    • 2
  • Shoji  Tsuji
    • 2
  • Hitoshi  Takahashi
    • 2
  • Roxann  Ashworth
    • 1
  • Russell L.  Margolis
    • 1
  • Christopher A.  Ross
    • 1
  1. 1.Department of Psychiatry, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross Research Building, Room 618, Baltimore, Maryland 21205-2196, USAUS
  2. 2.Brain Research Institute, Niigata University, Niigata, JapanJP
  3. 3.Department of Neuroscience, Johns Hopkins University, Baltimore, Maryland 21205, USAUS
  4. 4.Program in Cellular and Molecular Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USAUS