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PMID:9560156

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Citation

Kitada, T, Asakawa, S, Hattori, N, Matsumine, H, Yamamura, Y, Minoshima, S, Yokochi, M, Mizuno, Y and Shimizu, N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-8

Abstract

Parkinson's disease is a common neurodegenerative disease with complex clinical features. Autosomal recessive juvenile parkinsonism (AR-JP) maps to the long arm of chromosome 6 (6q25.2-q27) and is linked strongly to the markers D6S305 and D6S253; the former is deleted in one Japanese AR-JP patient. By positional cloning within this microdeletion, we have now isolated a complementary DNA done of 2,960 base pairs with a 1,395-base-pair open reading frame, encoding a protein of 465 amino acids with moderate similarity to ubiquitin at the amino terminus and a RING-finger motif at the carboxy terminus. The gene spans more than 500 kilobases and has 12 exons, five of which (exons 3-7) are deleted in the patient. Four other AR-JP patients from three unrelated families have a deletion affecting exon 4 alone. A 4.5-kilobase transcript that is expressed in many human tissues but is abundant in the brain, including the substantia nigra, is shorter in brain tissue from one of the groups of exon-4-deleted patients. Mutations in the newly identified gene appear to be responsible for the pathogenesis of AR-JP, and we have therefore named the protein product 'Parkin'.

Links

PubMed Online version:10.1038/33416

Keywords

Adult; Amino Acid Sequence; Blotting, Northern; Blotting, Southern; Chromosomes, Human, Pair 6; Exons; Female; Gene Deletion; Genes, Recessive; Humans; Introns; Ligases; Male; Molecular Sequence Data; Parkinson Disease/genetics; Pedigree; Polymerase Chain Reaction; Proteins/chemistry; Proteins/genetics; Sequence Homology, Amino Acid; Ubiquitin-Protein Ligases; Ubiquitins/chemistry

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:PRKN

involved_in

GO:0007417: central nervous system development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:PRKN2

involved_in

GO:0007417: central nervous system development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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