title: Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.
abstract: A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease. We have sequenced the entire coding region of the gene in 11 families who have a pattern of disease consistent with autosomal dominant inheritance. We found a polymorphism (S18Y) in exon 3, two polymorphisms in the 5' non-coding region, upstream of the transcription start, and an insertion/deletion polymorphism in intron 4. The S18Y allele is present on approximately 20% of chromosomes in a Caucasian population. These changes are, therefore, unlikely to be pathogenic. We conclude that the I93M variant must either be a rare cause of disease or a harmless substitution whose occurrence in the family reflects a chance co-occurrence.
authors: Mayo Clinic Jacksonville, FL 32224, USA.
authors: S
authors: S
authors: Lincoln
authors: J
authors: J
authors: Vaughan
authors: N
authors: N
authors: Wood
authors: M
authors: M
authors: Baker
authors: J
authors: J
authors: Adamson
authors: K
authors: K
authors: Gwinn-Hardy
authors: T
authors: T
authors: Lynch
authors: J
authors: J
authors: Hardy
authors: M
authors: M
authors: Farrer
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012016:Reference Values; D013869:Thiolester Hydrolases / Q000235:genetics*; D043222:Ubiquitin Thiolesterase
chemical_list: D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase