title: Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.
abstract: Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral neurons. Recently, the parkin gene responsible for AR-JP has been identified. To date, we found two different deletional mutations including single and multiple exonic deletions. In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families. This is the first report on point mutations for the parkin gene. Furthermore, the Thr240Arg mutation was located on a consensus sequence for the site of phosphorylation by casein kinase II. Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan. nhattori@med.juntendo.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: H
authors.initials: H
authors.lastname: Matsumine
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: T
authors.initials: T
authors.lastname: Kitada
authors.forename: H
authors.initials: H
authors.lastname: Yoshino
authors.forename: B
authors.initials: B
authors.lastname: Elibol
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamura
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.forename: A
authors.initials: A
authors.lastname: Yoritaka
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D003241:Consanguinity; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008025:Ligases; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D014421:Turkey; D044767:Ubiquitin-Protein Ligases
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases