Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.
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.
Bak
Mads
M
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
Hansen
Claus
C
Henriksen
Karen Friis
KF
Hansen
Lars
L
Pakkenberg
Henning
H
Eiberg
Hans
H
Tommerup
Niels
N
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*
D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators