Positional cloning of the autosomal recessive juvenile parkinsonism (AR-JP) gene and its diversity in deletion mutations

T Kitada; S Asakawa; H Matsumine; N Hattori; S Minoshima; N Shimizu; Y Mizuno

doi:10.1016/s1353-8020(99)00032-2

Positional cloning of the autosomal recessive juvenile parkinsonism (AR-JP) gene and its diversity in deletion mutations

Parkinsonism Relat Disord. 1999 Dec;5(4):163-8. doi: 10.1016/s1353-8020(99)00032-2.

Authors

T Kitada¹, S Asakawa, H Matsumine, N Hattori, S Minoshima, N Shimizu, Y Mizuno

Affiliation

¹ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-8421, Japan; Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.

PMID: 18591135
DOI: 10.1016/s1353-8020(99)00032-2

Abstract

Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by highly selective neuronal cell death in the substantia nigra and the locus coeruleus with no Lewy body formation. We succeeded in positional cloning of the AR-JP gene by screening the Keio BAC library with a microsatellite marker, D6S305, which is located AR-JP locus (6q25.2-q27). The gene was named as parkin; parkin consists of 12 exons spanning about 1Mb with 1395bp coding sequence. Patients with AR-JP showed various deletions in 14 Japanese families and two different types of point mutations in two Turkish families. AR-JP appears to have world-wide distribution.