Universität zu Köln

Schmitt, Ina, Wuellner, Ullrich, van Rooyen, Jan Pierre, Khazneh, Hassan, Becker, Julian, Volk, Alexander, Kubisch, Christian ORCID: 0000-0003-4220-0978, Becker, Tim, Kostic, Vladimir S., Klein, Christine and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2012). Variants in the 3 ' UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression. Eur. J. Hum. Genet., 20 (12). S. 1265 - 1270. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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Abstract

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 (2012) 20, 1265-1269; doi:10.1038/ejhg.2012.84; published online 23 May 2012

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schmitt, Ina UNSPECIFIED UNSPECIFIED UNSPECIFIED Wuellner, Ullrich UNSPECIFIED UNSPECIFIED UNSPECIFIED van Rooyen, Jan Pierre UNSPECIFIED UNSPECIFIED UNSPECIFIED Khazneh, Hassan UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Julian UNSPECIFIED UNSPECIFIED UNSPECIFIED Volk, Alexander UNSPECIFIED UNSPECIFIED UNSPECIFIED Kubisch, Christian UNSPECIFIED orcid.org/0000-0003-4220-0978 UNSPECIFIED Becker, Tim UNSPECIFIED UNSPECIFIED UNSPECIFIED Kostic, Vladimir S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Klein, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Ramirez, Alfredo UNSPECIFIED orcid.org/0000-0003-4991-763X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-477929
DOI:	10.1038/ejhg.2012.84
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	20
Number:	12
Page Range:	S. 1265 - 1270
Date:	2012
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PARKINSON-DISEASE; ASSOCIATION; RISK; GENE Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47792