title: Splicing variants of porcine synphilin-1.
abstract: Parkinson's disease (PD), idiopathic and familial, is characterized by degradation of dopaminergic neurons and the presence of Lewy bodies (LB) in the substantia nigra. LBs contain aggregated proteins of which α-synuclein is the major component. The protein synphilin-1 interacts and colocalizes with α-synuclein in LBs. The aim of this study was to isolate and characterize porcine synphilin-1 and isoforms hereof with the future perspective to use the pig as a model for Parkinson's disease. The porcine SNCAIP cDNA was cloned by reverse transcriptase PCR. The spatial expression of SNCAIP mRNA was investigated by RNAseq. The presented work reports the molecular cloning and characterization of the porcine (Sus scrofa) synphilin-1 cDNA (SNCAIP) and three splice variants hereof. The porcine SNCAIP cDNA codes for a protein (synphilin-1) of 919 amino acids which shows a high similarity to human (90%) and to mouse (84%) synphilin-1. Three shorter transcript variants of the synphilin-1 gene were identified, all lacking one or more exons. SNCAIP transcripts were detected in most examined organs and tissues and the highest expression was found in brain tissues and lung. Conserved splicing variants and a novel splice form of synhilin-1 were found in this study. All synphilin-1 isoforms encoded by the identified transcript variants lack functional domains important for protein degradation.
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, Blichers Allé 20, P.O. Box 50, DK-8830 Tjele, Denmark.
authors.forename: Knud
authors.initials: K
authors.lastname: Larsen
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, Blichers Allé 20, P.O. Box 50, DK-8830 Tjele, Denmark.
authors.forename: Lone Bruhn
authors.initials: LB
authors.lastname: Madsen
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, Blichers Allé 20, P.O. Box 50, DK-8830 Tjele, Denmark.
authors.forename: Leila
authors.initials: L
authors.lastname: Farajzadeh
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, Blichers Allé 20, P.O. Box 50, DK-8830 Tjele, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Bendixen
keywords: LB, Lewy body; Lewy body; ORF, open reading frame; Parkinson's disease; Pig; SNCAIP, α-synuclein interacting protein; Synphilin-1; α-Synuclein