Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients

Mads Bak; Claus Hansen; Karen Friis Henriksen; Lars Hansen; Henning Pakkenberg; Hans Eiberg; Niels Tommerup

doi:10.1016/j.molbrainres.2004.04.005

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients

Brain Res Mol Brain Res. 2004 Jul 26;126(2):207-11. doi: 10.1016/j.molbrainres.2004.04.005.

Authors

Mads Bak¹, Claus Hansen, Karen Friis Henriksen, Lars Hansen, Henning Pakkenberg, Hans Eiberg, Niels Tommerup

Affiliation

¹ 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

PMID: 15249145
DOI: 10.1016/j.molbrainres.2004.04.005

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis / methods
Enhancer Elements, Genetic / genetics*
Hedgehog Proteins
Humans
Parkinson Disease / genetics*
Promoter Regions, Genetic / genetics*
Trans-Activators / genetics*

Substances

Hedgehog Proteins
SHH protein, human
Trans-Activators