Nature Genetics 37, 1309 - 1311 (2005)
Published online: 13 November 2005; | doi:10.1038/ng1677
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAnna-Kaisa Anttonen1, 2, Ibrahim Mahjneh3, Riikka H Hämäläinen1, 2, Clotilde Lagier-Tourenne4, Outi Kopra5, Laura Waris1, Mikko Anttonen6, Tarja Joensuu1, Hannu Kalimo7, Anders Paetau7, Lisbeth Tranebjaerg8, Denys Chaigne9, Michel Koenig4, Orvar Eeg-Olofsson10, Bjarne Udd11, Mirja Somer12, Hannu Somer13
& Anna-Elina Lehesjoki11
Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland. 2
Department of Medical Genetics, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland. 3
Department of Neurology, Pietarsaari Hospital, PO Box 3, FI-68601 Pietarsaari, and Department of Neurology, University of Oulu, Oulu, Finland. 4
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université Louis-Pasteur, 1 rue Laurent Fries, BP10142, FR-67404 Illkirch, France. 5
Neuroscience Center, University of Helsinki, PO Box 63, FI-00014 Helsinki, and Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland. 6
Children's Hospital and Program for Developmental and Reproductive Biology, Biomedicum Helsinki, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland. 7
Department of Pathology, University of Helsinki and Helsinki University Central Hospital, PO Box 21, FI-00014 Helsinki, Finland. 8
Department of Medical Genetics, University Hospital of Tromsoe, Tromsoe, Norway; Department of Audiology, H:S Bispebjerg Hospital; and Wilhelm Johannsen Centre of Functional Genomics, Institute of Medical Biochemistry and Genetics IMBG, University of Copenhagen, The Panum Institute, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark. 9
Neuropediatrie, Clinique Sainte Odile, 6 rue Simonis, FR-67100 Strasbourg, France. 10
Department of Women's and Children's Health / Pediatrics, Uppsala University, SE-751 85 Uppsala, Sweden. 11
Folkhälsan Institute of Genetics, University of Helsinki, PO Box 63, FI-00014 Helsinki; Department of Neurology, Vaasa Central Hospital, Vaasa; and Department of Neurology, Tampere University Hospital, Tampere, Finland. 12
The Family Federation of Finland, PO Box 849, FI-00101 Helsinki, Finland. 13
Department of Neurology, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland.
Correspondence should be addressed to Anna-Elina Lehesjoki anna-elina.lehesjoki@helsinki.fi We identified the gene underlying Marinesco-Sjögren 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-Sjögren syndrome.
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