| Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression. | |
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MedLine Citation:
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PMID: 22617348 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 region contribute to PD, we sequenced the 3'UTR of SNCA in 1285 PD patients and 1120 age/sex-matched healthy controls. We found two rare variants, the one corresponding to the single nucleotide polymorphism rs145304567 and the novel variant c.*1004_1008delTTTTT. Although rs145304567 affects the putative-binding site of microRNA (miRNA) -433, the allele distribution was similar in PD patients and controls, and the expression of SNCA mRNA was not related to the genotype. Furthermore, a regulatory effect of miRNA-433 on SNCA expression levels was not detected.European Journal of Human Genetics advance online publication, 23 May 2012; doi:10.1038/ejhg.2012.84. |
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Authors:
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Ina Schmitt; Ullrich Wüllner; Jan Pierre van Rooyen; Hassan Khazneh; Julian Becker; Alexander Volk; Christian Kubisch; Tim Becker; Vladimir S Kostic; Christine Klein; Alfredo Ramirez |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-5-23 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: - Publication Date: 2012 May |
Date Detail:
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Created Date: 2012-5-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1] Department of Neurology, University of Bonn, Bonn, Germany [2] German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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