Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
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ABSTRACT:
SUBMITTER: Schmitt I
PROVIDER: S-EPMC3499742 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
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Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Schmitt Ina I Wüllner Ullrich U van Rooyen Jan Pierre JP Khazneh Hassan H Becker Julian J Volk Alexander A Kubisch Christian C Becker Tim T Kostic Vladimir S VS Klein Christine C Ramirez Alfredo A
European journal of human genetics : EJHG 20120523 12
Alpha-synuclein (SNCA) is a major risk gene for Parkinson's disease (PD) and increased SNCA gene dosage results in a parkinsonian syndrome in affected families. Regulatory regions relevant for SNCA expression include the 3' untranslated region (UTR), which among other regulatory elements contains several micro-RNA-binding sites. Interestingly, variants located in the 3' region of SNCA have been associated with PD in two genome-wide association studies. To test whether private mutations in this r ...[more]
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