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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
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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“Yet, complex neurodegenerative disorders with systemic abnormalities, such as Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) [128] and certain forms of Hereditary Spastic Paraplegia (HSP, including SPG11 and SPG15-HSPs) [129], would also benefit from a gene therapeutic approach developed from any of the methods discussed in this review.”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [128]
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Metadata
- 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
- Venue
- Nature Genetics
- Published
- 2000-02
- Volume
- 24
- Issue
- 2
- Pages
- 120-125
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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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