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The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.

Publication ,  Journal Article
McCarthy, JJ; Linnertz, C; Saucier, L; Burke, JR; Hulette, CM; Welsh-Bohmer, KA; Chiba-Falek, O
Published in: Neurogenetics
February 2011

Genetic variability at the 3' region of SNCA locus has been repeatedly associated with susceptibility to sporadic Parkinson's disease (PD). Accumulated evidence emphasizes the importance of SNCA dosage and expression levels in PD pathogenesis. However, the mechanism through which the 3' region of SNCA gene modulates the risk to develop sporadic PD remained elusive. We studied the effect of PD risk-associated variants at SNCA 3' regions on SNCA112-mRNA (exon 5 in-frame skipping) levels in vivo in 117 neuropathologically normal, human brain frontal cortex samples. SNPs tagging the SNCA 3' showed significant effects on the relative levels of SNCA112-mRNA from total SNCA transcripts levels. The "risk" alleles were correlated with increased expression ratio of SNCA112-mRNA from total. We provide evidence for functional consequences of PD-associated SNCA gene variants at the 3' region, suggesting that genetic regulation of SNCA splicing plays an important role in the development of the disease. Further studies to determine the definite functional variant/s within SNCA 3'and to establish their association with PD pathology are necessary.

Duke Scholars

Published In

Neurogenetics

DOI

EISSN

1364-6753

Publication Date

February 2011

Volume

12

Issue

1

Start / End Page

59 / 64

Location

United States

Related Subject Headings

  • alpha-Synuclein
  • RNA, Messenger
  • RNA Splice Sites
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Linkage Disequilibrium
  • Humans
  • Genetic Variation
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
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McCarthy, J. J., Linnertz, C., Saucier, L., Burke, J. R., Hulette, C. M., Welsh-Bohmer, K. A., & Chiba-Falek, O. (2011). The effect of SNCA 3' region on the levels of SNCA-112 splicing variant. Neurogenetics, 12(1), 59–64. https://doi.org/10.1007/s10048-010-0263-4
McCarthy, Jeanette J., Colton Linnertz, Laura Saucier, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.Neurogenetics 12, no. 1 (February 2011): 59–64. https://doi.org/10.1007/s10048-010-0263-4.
McCarthy JJ, Linnertz C, Saucier L, Burke JR, Hulette CM, Welsh-Bohmer KA, et al. The effect of SNCA 3' region on the levels of SNCA-112 splicing variant. Neurogenetics. 2011 Feb;12(1):59–64.
McCarthy, Jeanette J., et al. “The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.Neurogenetics, vol. 12, no. 1, Feb. 2011, pp. 59–64. Pubmed, doi:10.1007/s10048-010-0263-4.
McCarthy JJ, Linnertz C, Saucier L, Burke JR, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O. The effect of SNCA 3' region on the levels of SNCA-112 splicing variant. Neurogenetics. 2011 Feb;12(1):59–64.
Journal cover image

Published In

Neurogenetics

DOI

EISSN

1364-6753

Publication Date

February 2011

Volume

12

Issue

1

Start / End Page

59 / 64

Location

United States

Related Subject Headings

  • alpha-Synuclein
  • RNA, Messenger
  • RNA Splice Sites
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Linkage Disequilibrium
  • Humans
  • Genetic Variation
  • Genetic Predisposition to Disease