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Volumn 24, Issue 2, 2000, Pages 120-125

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

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CANADA; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MOUSE; NERVE DEGENERATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FOLDING; SEQUENCE ANALYSIS;

EID: 0343384355     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/72769     Document Type: Article
Times cited : (374)

References (42)
  • 2
    • 0032190911 scopus 로고    scopus 로고
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    • Bouchard, J.P. et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul. Disord. 8, 474-479 (1998).
    • (1998) Neuromuscul. Disord. , vol.8 , pp. 474-479
    • Bouchard, J.P.1
  • 3
    • 0033361944 scopus 로고    scopus 로고
    • Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13q11
    • Richter, A. et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13q11. Am. J. Hum. Genet. 64, 768-775 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 768-775
    • Richter, A.1
  • 4
    • 0003333991 scopus 로고
    • The French origins of the Canadian population 1608-1759
    • (ed. Harris, R.C.) plate 45 University of Toronto Press, Toronto
    • 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).
    • (1987) Historical Atlas of Canada Volume I: From the Beginning to 1800 , vol.1
    • Charbonneau, H.1    Robert, N.2
  • 5
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome linkage disequilibrium mapping of common disease genes
    • Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139-144 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 139-144
    • Kruglyak, L.1
  • 6
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211 (1992).
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hästbacka, J.1
  • 7
    • 0031019266 scopus 로고    scopus 로고
    • Allelic disequilibrium and allele frequency distribution as a function of social and demographic history
    • Thompson, E.A. & Neel, J.V. Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. Am. J. Hum. Genet. 60, 197-204 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 197-204
    • Thompson, E.A.1    Neel, J.V.2
  • 8
    • 0032231634 scopus 로고    scopus 로고
    • Disequilibrium likelihoods for fine-scale mapping of a rare allele
    • Graham, J. & Thompson, E.A. Disequilibrium likelihoods for fine-scale mapping of a rare allele. Am. J. Hum. Genet. 63, 1517-1530 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1517-1530
    • Graham, J.1    Thompson, E.A.2
  • 9
    • 0033387852 scopus 로고    scopus 로고
    • High resolution physical and transcript map of the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) candidate region in chromosome 13q11
    • Engert, J.C. et al. High resolution physical and transcript map of the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) candidate region in chromosome 13q11. Genomics 62, 156-164 (1999).
    • (1999) Genomics , vol.62 , pp. 156-164
    • Engert, J.C.1
  • 10
    • 0032924105 scopus 로고    scopus 로고
    • Chaperone-mediated protein folding
    • Fink, A.L. Chaperone-mediated protein folding. Physiol. Rev. 79, 425-449 (1999).
    • (1999) Physiol. Rev. , vol.79 , pp. 425-449
    • Fink, A.L.1
  • 11
    • 0032924953 scopus 로고    scopus 로고
    • Hsp90 & Co. - A holding for folding
    • Buchner, J. Hsp90 & Co. - a holding for folding. Trends Biochem. Sci. 24, 136-141 (1999).
    • (1999) Trends Biochem. Sci. , vol.24 , pp. 136-141
    • Buchner, J.1
  • 12
    • 0028785298 scopus 로고
    • Phylogenetic analysis of the 90 kD heat shock family of protein sequences and an examination of the relationship among animals, plants, and fungi species
    • Gupta, R.S. Phylogenetic analysis of the 90 kD heat shock family of protein sequences and an examination of the relationship among animals, plants, and fungi species. Mol. Biol. Evol. 12, 1063-1073 (1995).
    • (1995) Mol. Biol. Evol. , vol.12 , pp. 1063-1073
    • Gupta, R.S.1
  • 13
    • 0027105007 scopus 로고
    • A knowledge base for predicting protein localization sites in eukaryotic cells
    • Nakai, K. & Kanehisa, M. A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics 14, 897-911 (1992).
    • (1992) Genomics , vol.14 , pp. 897-911
    • Nakai, K.1    Kanehisa, M.2
  • 14
    • 17744408207 scopus 로고    scopus 로고
    • A first-generation whole-genome radiation hybrid map spanning the mouse genome
    • McCarthy, L.C. et al. A first-generation whole-genome radiation hybrid map spanning the mouse genome. Genome Res. 7, 1153-1161 (1997).
    • (1997) Genome Res. , vol.7 , pp. 1153-1161
    • McCarthy, L.C.1
  • 15
    • 0032807051 scopus 로고    scopus 로고
    • Radiation hybrid map of the mouse genome
    • Van Etten, W.J. et al. Radiation hybrid map of the mouse genome. Nature Genet. 22, 384-387 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 384-387
    • Van Etten, W.J.1
  • 16
    • 0026456701 scopus 로고
    • 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. et al. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell. 71, 527-542 (1992).
    • (1992) Cell. , vol.71 , pp. 527-542
    • Brown, C.J.1
  • 17
    • 0031023179 scopus 로고    scopus 로고
    • MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat
    • Porchet, N., Aubert, J.P. & Laine, A. MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat. J. Biol. Chem. 272, 3168-3178 (1997).
    • (1997) J. Biol. Chem. , vol.272 , pp. 3168-3178
    • Porchet, N.1    Aubert, J.P.2    Laine, A.3
  • 18
    • 0033618555 scopus 로고    scopus 로고
    • Detecting protein function and protein-protein interactions from genome sequences
    • Marcotte, E.M. et al. Detecting protein function and protein-protein interactions from genome sequences. Science 285, 751-753 (1999).
    • (1999) Science , vol.285 , pp. 751-753
    • Marcotte, E.M.1
  • 19
    • 0031444238 scopus 로고    scopus 로고
    • Identification and structural characterization of the ATP/ADP-binding site in the Hsp90 molecular chaperone
    • Prodromou, C. et al. Identification and structural characterization of the ATP/ADP-binding site in the Hsp90 molecular chaperone. Cell 90, 65-75 (1997).
    • (1997) Cell , vol.90 , pp. 65-75
    • Prodromou, C.1
  • 20
    • 0029026540 scopus 로고
    • Role of the protein chaperone YDJ1 in establishing Hsp90-mediated signal transduction pathways
    • Kimura, Y., Yahara, I. & Lindquist, S. Role of the protein chaperone YDJ1 in establishing Hsp90-mediated signal transduction pathways. Science 268, 1362-1365 (1995).
    • (1995) Science , vol.268 , pp. 1362-1365
    • Kimura, Y.1    Yahara, I.2    Lindquist, S.3
  • 21
    • 0032571320 scopus 로고    scopus 로고
    • The role of DnaJ-like proteins in glucocorticoid receptor·hsp90 heterocomplex assembly by the reconstituted hsp90·p60·hsp70 foldosome complex
    • Dittmar, K.D., Banach, M., Galigniana, M.D. & Pratt, W.B. The role of DnaJ-like proteins in glucocorticoid receptor·hsp90 heterocomplex assembly by the reconstituted hsp90·p60·hsp70 foldosome complex. J. Biol. Chem. 273, 7358-7366 (1998).
    • (1998) J. Biol. Chem. , vol.273 , pp. 7358-7366
    • Dittmar, K.D.1    Banach, M.2    Galigniana, M.D.3    Pratt, W.B.4
  • 22
    • 0031838352 scopus 로고    scopus 로고
    • Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
    • Cummings, C.J. et al. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nature Genet. 19, 148-154 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 148-154
    • Cummings, C.J.1
  • 24
    • 0029265722 scopus 로고
    • Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay-Lac-St-Jean, Quebec
    • De Braekeleer, M. Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay-Lac-St-Jean, Quebec. Ann. Hum. Biol. 22, 111-122 (1995).
    • (1995) Ann. Hum. Biol. , vol.22 , pp. 111-122
    • De Braekeleer, M.1
  • 25
    • 0026424332 scopus 로고
    • DNA sampling and informed consent
    • Knoppers, B.M. & Laberge, C. DNA sampling and informed consent. CMAJ 144, 128-129 (1991).
    • (1991) CMAJ , vol.144 , pp. 128-129
    • Knoppers, B.M.1    Laberge, C.2
  • 26
    • 0005619602 scopus 로고    scopus 로고
    • Bacterial artificial chromosomes
    • (eds Birren, B. et al.) Cold Spring Harbor Laboratory Press, Plainview
    • Birren, B.W., Mancino, V. & Shizuya, H. Bacterial artificial chromosomes. in Genome Analysis: A Laboratory Manual (eds Birren, B. et al.) 241-295 (Cold Spring Harbor Laboratory Press, Plainview, 1999).
    • (1999) Genome Analysis: A Laboratory Manual , pp. 241-295
    • Birren, B.W.1    Mancino, V.2    Shizuya, H.3
  • 28
    • 0030341784 scopus 로고    scopus 로고
    • Experiment files and their application during large-scale sequencing projects
    • Bonfield, J.K. & Staden, R. Experiment files and their application during large-scale sequencing projects. DNA Seq. 6, 109-117 (1996).
    • (1996) DNA Seq. , vol.6 , pp. 109-117
    • Bonfield, J.K.1    Staden, R.2
  • 29
    • 0030830301 scopus 로고    scopus 로고
    • Fluorescence-based sequencing directly from bacterial and P1-derived artificial chromosomes
    • Boysen, C., Simon, M.I. & Hood, L. Fluorescence-based sequencing directly from bacterial and P1-derived artificial chromosomes. Biotechniques 23, 978-982 (1997).
    • (1997) Biotechniques , vol.23 , pp. 978-982
    • Boysen, C.1    Simon, M.I.2    Hood, L.3
  • 30
    • 0030013766 scopus 로고    scopus 로고
    • BCM search launcher - An integrated interface to molecular biology data base search and analysis services available on the world wide web
    • Smith, R.F., Wiese, B.A., Wojzynski, M.K., Davison, D.B. & Worley, K.C. BCM search launcher - an integrated interface to molecular biology data base search and analysis services available on the World Wide Web. Genome Res. 6, 454-462 (1996).
    • (1996) Genome Res. , vol.6 , pp. 454-462
    • Smith, R.F.1    Wiese, B.A.2    Wojzynski, M.K.3    Davison, D.B.4    Worley, K.C.5
  • 31
    • 0025852620 scopus 로고
    • Neuropeptide Y and catecholamine synthesizing enzymes and their mRNAs in rat sympathetic neurons and adrenal glands: Studies on expression, synthesis and axonal transport after pharmacological and experimental manipulations using hybridization techiques and radioimmunoassay
    • Schalling, M. et al. Neuropeptide Y and catecholamine synthesizing enzymes and their mRNAs in rat sympathetic neurons and adrenal glands: studies on expression, synthesis and axonal transport after pharmacological and experimental manipulations using hybridization techiques and radioimmunoassay. Neuroscience 41, 753-766 (1991).
    • (1991) Neuroscience , vol.41 , pp. 753-766
    • Schalling, M.1
  • 32
    • 0029062606 scopus 로고
    • Computer programs for multilocus haplotyping of general pedigrees
    • Weeks, D.E., Sobel, E., O'Connell, J.R. & Lange, K. Computer programs for multilocus haplotyping of general pedigrees. Am. J. Hum. Genet. 56, 1506-1507 (1995).
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1506-1507
    • Weeks, D.E.1    Sobel, E.2    O'Connell, J.R.3    Lange, K.4
  • 33
    • 0032902263 scopus 로고    scopus 로고
    • Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: Example of a French Canadian population
    • Austerlitz, F. & Heyer, E. Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: example of a French Canadian population. Genet. Epidemiol. 16, 2-14 (1999).
    • (1999) Genet. Epidemiol. , vol.16 , pp. 2-14
    • Austerlitz, F.1    Heyer, E.2
  • 34
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium measures for fine-scale mapping
    • Devlin, B. & Risch, N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29, 311-322 (1995).
    • (1995) Genomics , vol.29 , pp. 311-322
    • Devlin, B.1    Risch, N.2
  • 35
    • 0032514681 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
    • de la Chapelle, A. & Wright, F.A.D. Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc. Natl Acad. Sci. USA 95, 12416-12423 (1998).
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 12416-12423
    • De La Chapelle, A.1    Wright, F.A.D.2
  • 36
    • 0028070381 scopus 로고
    • Limits of resolution of genetic linkage studies: Implications for the positional cloning of human disease genes
    • Boehnke, M. Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes. Am. J. Hum. Genet. 55, 379-390 (1994).
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 379-390
    • Boehnke, M.1
  • 38
    • 0032410933 scopus 로고    scopus 로고
    • Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population
    • Austerlitz, F. & Heyer, E. Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population. Proc. Natl Acad. Sci. USA 95, 15140-15144 (1998).
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 15140-15144
    • Austerlitz, F.1    Heyer, E.2
  • 39
    • 0033083369 scopus 로고    scopus 로고
    • One founder/one gene hypothesis in a new expanding population Saguenay (Quebec, Canada)
    • Heyer, E. One founder/one gene hypothesis in a new expanding population Saguenay (Quebec, Canada). Hum. Biol. 71, 99-109 (1999).
    • (1999) Hum. Biol. , vol.71 , pp. 99-109
    • Heyer, E.1
  • 40
    • 19244363787 scopus 로고    scopus 로고
    • Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
    • McNally, E.M. et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am. J. Hum. Genet. 59, 1040-1047 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1040-1047
    • McNally, E.M.1
  • 41
    • 0032582378 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    • Nagase, T. et al. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5, 277-286 (1998).
    • (1998) DNA Res. , vol.5 , pp. 277-286
    • Nagase, T.1
  • 42
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice
    • Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22, 4673-4680 (1994).
    • (1994) Nucleic Acids Res. , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3


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