Cited by 434Genetic Neurodegenerative DiseasesHereditary Neurological DisordersGenetics and Neurodevelopmental Disorders

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Engert, James C., Bérubé, Pierre, Mercier, Jocelyne, Doré, Carole, Lepage, Pierre, Ge, Bing, Bouchard, Jean-Pierre, Mathieu, Jean, Melançon, Serge B., Schalling, Martin, Lander, Eric S., Morgan, Kenneth, Hudson, Thomas J., Richter, Andrea·2000·Nature Genetics

DOI 10.1038/72769

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Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. We previously mapped the gene responsible for ARSACS to chromosome 13q11 and identified two ancestral haplotypes. Here we report the cloning of this gene, SACS, which encodes the protein sacsin. The ORF of SACS is 11,487 bp and is encoded by a single gigantic exon spanning 12,794 bp. This exon is the largest to be identified in any vertebrate organism. The ORF is conserved in human and mouse. The putative protein contains three large segments with sequence similarity to each other and to the predicted protein of an Arabidopsis thaliana ORF. The presence of heat-shock domains suggests a function for sacsin in chaperone-mediated protein folding. SACS is expressed in a variety of tissues, including the central nervous system. We identified two SACSmutations in ARSACS families that lead to protein truncation, consistent with haplotype analysis.

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.22.4673 · Cited by 64,617
Detecting Protein Function and Protein-Protein Interactions from Genome Sequences
Marcotte, E. M., Pellegrini, M., Ng, H.-L., Rice, D. W., Yeates, T. O., & Eisenberg, D. (1999) · Science · doi:10.1126/science.285.5428.751 · Cited by 1,670
A knowledge base for predicting protein localization sites in eukaryotic cells
Nakai, K., & Kanehisa, M. I. (1992) · Genomics · doi:10.1016/s0888-7543(05)80111-9 · Cited by 1,512
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416
The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
Brown, C. J., Hendrich, B., Rupert, J. L., Lafrenière, R. G., Xing, Y., Lawrence, J. B., & Willard, H. F. (1992) · Cell · doi:10.1016/0092-8674(92)90520-m · Cited by 1,328
Identification and Structural Characterization of the ATP/ADP-Binding Site in the Hsp90 Molecular Chaperone
Prodromou, C., Roe, S. M., O’Brien, R., Ladbury, J. E., Piper, P. W., & Pearl, L. H. (1997) · Cell · doi:10.1016/s0092-8674(00)80314-1 · Cited by 1,258
Chaperone-Mediated Protein Folding
Fink, A. L. (1999) · Physiological Reviews · doi:10.1152/physrev.1999.79.2.425 · Cited by 1,055
A Comparison of Linkage Disequilibrium Measures for Fine-Scale Mapping
Devlin, B., & RISCH, N. J. (1995) · Genomics · doi:10.1006/geno.1995.9003 · Cited by 1,039
A new DNA sequence assembly program
Bonfield, J., Smith, K. F., & Staden, R. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.24.4992 · Cited by 978
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
Cummings, C. J., Mancini, M. A., Antalffy, B. A., DeFranco, D. B., Orr, H. T., & Zoghbi, H. Y. (1998) · Nature Genetics · doi:10.1038/502 · Cited by 747

Show all 40 references

Research works printed but not linked: 2

Bouchard, J.-P. Recessive spastic ataxia of Charlevoix-Saguenay. in Handbook of Clinical Neurology 16: Hereditary Neuropathies and Spinocerebellar Degenerations (ed. de Jong, J.M.B.V.) 451–459 (Elsevier, Amsterdam, 1991).
Charbonneau, H. & Robert, N. The French origins of the Canadian population 1608–1759. in Historical Atlas of Canada Volume I: From the Beginning to 1800 (ed. Harris, R.C.) plate 45 (University of Toronto Press, Toronto, 1987).

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A Novel SACS Gene Mutation in a Tunisian Family
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Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.
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Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
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Authors: Engert, J. C., Bérubé, P., Mercier, J., Doré, C., Lepage, P., Ge, B., Bouchard, J.-P., Mathieu, J., Melançon, S. B., Schalling, M., Lander, E. S., Morgan, K., Hudson, T. J., & Richter, A.
Affiliations: McGill University Health Centre (CA)
Centre Hospitalier Universitaire Sainte-Justine (CA)
Hôpital de l'Enfant-Jésus (CA)
Hôpital de Chicoutimi (CA)
Karolinska Institutet (SE)
Whitehead Institute for Biomedical Research (US)
ORCID: Engert, James C.
Bérubé, Pierre
Ge, Bing
Mathieu, Jean
Schalling, Martin
Lander, Eric S.
Hudson, Thomas J.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2000-02
Volume: 24
Issue: 2
Pages: 120-125
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/72769
OpenAlex: W2117733752
Cited by: 434
References: 40
Citations by year: 2026: 6 · 2025: 21 · 2024: 12 · 2023: 18 · 2022: 16 · 2021: 28 · 2020: 11 · 2019: 14 · 2018: 19 · 2017: 13 · 2016: 11 · 2015: 20 · 2014: 10 · 2013: 21 · 2012: 26
FWCI: 4.51
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: ARSACS, SACS gene, sacsin, neurodegenerative diseases, gene cloning, haplotype analysis, chaperone-mediated protein folding
MeSH terms: Amino Acid Sequence, Animals, Ataxia, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 13, Exons, Heat-Shock Proteins, Humans, Molecular Sequence Data, Mutation, Quebec, Spinocerebellar Degenerations, Linkage Disequilibrium, Prevalence, Open Reading Frames, Sequence Alignment, Arabidopsis, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Mice

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

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