title: Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.
abstract: Sonic hedgehog (SHH) is involved in the induction and differentiation of nigrostriatale dopaminergic neurons. We have investigated the promoter, two putative enhancer elements and the coding region of SHH for mutations in patients with Parkinson's disease (PD). None of the identified sequence variations were present at a significantly different frequency in PD patients compared to healthy individuals, suggesting that they are not involved in the pathogenesis of PD.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Blegdamsvej 3, Bldg. 24.4, DK-2200N Copenhagen, Denmark. mads@medgen.ku.dk
authors.forename: Mads
authors.initials: M
authors.lastname: Bak
authors.forename: Claus
authors.initials: C
authors.lastname: Hansen
authors.forename: Karen Friis
authors.initials: KF
authors.lastname: Henriksen
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
authors.forename: Henning
authors.initials: H
authors.lastname: Pakkenberg
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D053823:Hedgehog Proteins; D006801:Humans; D010300:Parkinson Disease / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators