The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone

被引：162

作者：

Anttonen, AK

Mahjneh, I

Hämäläinen, RH

Lagier-Tourenne, C

Kopra, O

Waris, L

Anttonen, M

Joensuu, T

Kalimo, H

Paetau, A

Tranebjaerg, L

Chaigne, D

Koenig, M

Eeg-Olofsson, O

Udd, B

Somer, M

Somer, H

Lehesjoki, AE

机构：

[1] Univ Helsinki, Folkhalsan Inst Genet, FI-00014 Helsinki, Finland

[2] Univ Helsinki, Ctr Neurosci, FI-00014 Helsinki, Finland

[3] Univ Helsinki, Dept Med Genet, FI-00014 Helsinki, Finland

[4] Pietarsaari Hosp, Dept Neurol, FI-68601 Pietarsaari, Finland

[5] Univ Oulu, Dept Neurol, Oulu, Finland

[6] Univ Strasbourg 1, CNRS, INSERM, Inst Genet Biol Mol & Cellulaire, FR-67404 Illkirch Graffenstaden, France

[7] Univ Helsinki, Ctr Neurosci, FI-00014 Helsinki, Finland

[8] Univ Helsinki, Biomedicum Helsinki, Program Dev & Reprod Biol, FI-00014 Helsinki, Finland

[9] Univ Helsinki, Childrens Hosp, FI-00014 Helsinki, Finland

[10] Univ Helsinki, Dept Pathol, FI-00014 Helsinki, Finland

[11] Univ Helsinki, Cent Hosp, FI-00014 Helsinki, Finland

[12] Univ Tromso Hosp, Dept Med Genet, N-9012 Tromso, Norway

[13] Bispebjerg Hosp, Dept Audiol, DK-2200 Copenhagen, Denmark

[14] Univ Copenhagen, Panum Inst, Inst Med Biochem & Genet IMBG, Wilhelm Johannsen Ctr Funct Genom, DK-2200 Copenhagen, Denmark

[15] Clin St Odile, FR-67100 Strasbourg, France

[16] Uppsala Univ, Dept Womens & Childrens Hlth Pediat, SE-75186 Uppsala, Sweden

[17] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland

[18] Tampere Univ Hosp, Dept Neurol, Tampere, Finland

[19] Family Federat Finland, FI-00101 Helsinki, Finland

[20] Univ Helsinki, Dept Neurol, FI-00014 Helsinki, Finland

来源：

NATURE GENETICS | 2005年 / 37卷 / 12期

基金：

芬兰科学院;

关键词：

D O I：

10.1038/ng1677

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.

引用

页码：1309 / 1311

页数：3

共 15 条

[1] Roles of molecular chaperones in protein misfolding diseases [J].