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

被引：4

作者：

Bak, M

Hansen, C

Henriksen, KF

Hansen, L

Pakkenberg, H

Eiberg, H

Tommerup, N

机构：

[1] Univ Copenhagen, Inst Med Biochem & Chem, Dept Med Genet G, Wilhelm Johannsen Ctr Funct Genome Res,Panum Inst, DK-2200 Copenhagen, Denmark

[2] Univ Copenhagen, Inst Med Biochem & Chem, Dept Med Genet, Panum Inst, DK-2200 Copenhagen, Denmark

[3] Bispebjerg Hosp, Neurol Res Lab, DK-2400 Copenhagen, Denmark

来源：

MOLECULAR BRAIN RESEARCH | 2004年 / 126卷 / 02期

关键词：

Sonic hedgehog; SHH; Parkinson's disease; mutation; enhancer elements;

D O I：

10.1016/j.molbrainres.2004.04.005

中图分类号：

Q189 [神经科学];

学科分类号：

071006 [神经生物学];

摘要：

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. (C) 2004 Elsevier B.V. All rights reserved.

引用

页码：207 / 211

页数：5

共 34 条

[1]

The Hedgehog signaling pathway - implications for drug targets in cancer and neurodegenerative disorders [J].

Bak, M ;

Hansen, C ;

Tommerup, N ;

Larsen, LA .

PHARMACOGENOMICS, 2003, 4 (04) :411-429

[2]

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly [J].

Belloni, E ;

Muenke, M ;

Roessler, E ;

Traverso, G ;

SiegelBartelt, J ;

Frumkin, A ;

Mitchell, HF ;

DonisKeller, H ;

Helms, C ;

Hing, AV ;

Heng, HHQ ;

Koop, B ;

Martindale, D ;

Rommens, JM ;

Tsui, LC ;

Scherer, SW .

NATURE GENETICS, 1996, 14 (03) :353-356

[3]

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].

Bonifati, V ;

Rizzu, P ;

van Baren, MJ ;

Schaap, O ;

Breedveld, GJ ;

Krieger, E ;

Dekker, MCJ ;

Squitieri, F ;

Ibanez, P ;

Joosse, M ;

van Dongen, JW ;

Vanacore, N ;

van Swieten, JC ;

Brice, A ;

Meco, G ;

van Duijn, CM ;

Oostra, BA ;

Heutink, P .

SCIENCE, 2003, 299 (5604) :256-259

[4]

Parkinson's disease: piecing together a genetic jigsaw [J].

Dekker, MCJ ;

Bonifati, V ;

van Duijn, CM .

BRAIN, 2003, 126 :1722-1733

[5]

Active conservation of noncoding sequences revealed by three-way species comparisons [J].

Dubchak, I ;

Brudno, M ;

Loots, GG ;

Pachter, L ;

Mayor, C ;

Rubin, EM ;

Frazer, KA .

GENOME RESEARCH, 2000, 10 (09) :1304-1306

[6]

Epstein DJ, 1999, DEVELOPMENT, V126, P281

[7]

The world according to Hedgehog [J].

Hammerschmidt, M ;

Brook, A ;

McMahon, AP .

TRENDS IN GENETICS, 1997, 13 (01) :14-21

[8]

INDUCTION OF MIDBRAIN DOPAMINERGIC-NEURONS BY SONIC HEDGEHOG [J].

HYNES, M ;

PORTER, JA ;

CHIANG, C ;

CHANG, D ;

TESSIERLAVIGNE, M ;

BEACHY, PA ;

ROSENTHAL, A .

NEURON, 1995, 15 (01) :35-44

[9]

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[10]

Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo [J].

Lai, K ;

Kaspar, BK ;

Gage, FH ;

Schaffer, DV .

NATURE NEUROSCIENCE, 2003, 6 (01) :21-27

← 1 2 3 4 →