Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion (original) (raw)

• Konigsmark, B.W. & Weiner, L.P. The olivopontocerebellar atrophies: a review. Medicine (Baltimore) 49, 227–241 (1970).
  Article CAS Google Scholar
• Berciano, J. Olivopontocerebellar atrophy: a review of 117 cases. J. Neurol. Sci. 53, 253–272 (1982).
  Article CAS Google Scholar
• Harding, A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the ‘the Drew family of Walworth’. Brain 105, 1–28 (1982).
  Article CAS Google Scholar
• Harding, A.E. Clinical features and classification of inherited ataxias. Adv. Neurol. 61, 1–14 (1993).
  CAS PubMed Google Scholar
• Enevoldson, T.P., Sanders, M.D. & Harding, A.E. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families. Brain 117, 445–460 (1994).
  Article Google Scholar
• Benomar, A. et al. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann. Neurol. 35, 439–444 (1994).
  Article CAS Google Scholar
• Benomar, A. et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1. Nature Genet. 10, 84–88 (1995).
  Article CAS Google Scholar
• David, G. et al. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am. J. Hum. Genet. 59, 1328–1336 (1996).
  CAS PubMed PubMed Central Google Scholar
• Gouw, L.G. et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 10, 89–93 (1995).
  Article CAS Google Scholar
• Holmberg, M. et al. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12–p21.1. Hum. Mol. Genet. 4, 1441–1445 (1995).
  Article CAS Google Scholar
• Krols, L. et al. Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1. Hum. Genet. 99, 225–232 (1997).
  Article CAS Google Scholar
• Jöbsis, G.J. et al. Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12–p21.1. J. Neurol. Neurosurg. Psychiatry 367–371 (1997).
• The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971–983 (1993).
  Article Google Scholar
• Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221–226 (1993).
  Article CAS Google Scholar
• Pulst, S.-M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269–276 (1996).
  Article CAS Google Scholar
• Sanpei, K. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277–284 (1996).
  Article CAS Google Scholar
• Imbert, G. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285–291 (19%).
  Article CAS Google Scholar
• Kawaguchi, Y. et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221–227 (1994).
  Article CAS Google Scholar
• Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9–13 (1994).
  Article CAS Google Scholar
• Nagafuchi, S. et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet. 8, 177–182 (1994).
  Article CAS Google Scholar
• Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403–406 (1995).
  Article CAS Google Scholar
• Stevanin, G. et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum. Mol. Genet. 5, 1887–1892 (1996).
  Article CAS Google Scholar
• Lindblad, K. et al. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 6, 965–971 (1996).
  Article CAS Google Scholar
• Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88, 11261–11265 (1991).
  Article CAS Google Scholar
• Cancel, G. et al. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am. J. Hum. Genet. 57, 809–816 (1995).
  CAS PubMed PubMed Central Google Scholar
• Cancel, G. et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Mol. Genet. 6, 709–715 (1997).
  Article CAS Google Scholar
• Kozak, M. An analysis of 5-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic. Acids. Res. 15, 8125–8148 (1987).
  Article CAS Google Scholar
• Dingwall, C. & Laskey, R.A. Nuclear targeting sequences—a consensus? Trends Biochem. Sci. 16, 478–481 (1991).
  Article CAS Google Scholar
• Mandel, J.-L. Breaking the rule of three. Nature 386, 767–769 (1997).
  Article CAS Google Scholar
• Zhuchenko, O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage-dependent calcium channel. Nature Genet 15, 62–69 (1997).
  Article CAS Google Scholar
• Diirr, A. & Brice, A. Genetics of movement disorders. Curr. Opin. Neurol. 9, 290–297 (1996).
  Article Google Scholar
• Martin, J.J. et al. On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol. 88, 277–286 (1994).
  Article CAS Google Scholar
• Ikeuchi, T. et al. Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol. 6, 37–44 (1995).
  Article CAS Google Scholar
• Leeflang, E.P. et al. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet. 4, 1519–1526 (1995).
  Article CAS Google Scholar
• Chong, S.S. et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for huntington disease: evidence from single sperm analyses. Hum. Mol. Genet. 6, 301–309 (1997).
  Article CAS Google Scholar
• Igarashi, S. et al. Intergenerational instability of the CAG repeat of the gene for Machado–Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5, 923–932 (1996).
  Article CAS Google Scholar
• Takiyama, Y. et al. Single sperm analysis of the CAG repeats in the gene for Machado–Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. Hum. Mol. Genet. 6, 1063–1068 (1997).
  Article CAS Google Scholar
• Kang, S., Jaworski, A., Ohshima, K. & Wells, R.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E coil. Nature Genet. 10, 213–218 (1995).
  Article CAS Google Scholar
• Gerber, H.P. et al. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263, 808–811 (1994).
  Article CAS Google Scholar
• Ross, C.A. When more is less: pathogenesis of glutamine repeat neurodegenerative disorders. Neuron 15, 493–496 (1995).
  Article CAS Google Scholar
• Stevanin, G. et al. Linkage disequilibrium between the spinocerebellar ataxia 3/ Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am. J. Hum. Genet. 60, 1548–1552 (1997).
  Article CAS Google Scholar
• Church, G.M. & Gilbert, W. Genomic sequencing. Proc. Natl. Acad. Sci. USA 81, 1991–1995 (1984).
  Article CAS Google Scholar
• Maniatis, T., Fritsch, E.F. & Sambrook, J. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989).
  Google Scholar
• Ruberg, M. et al. Is differential regulation of mitochondrial transcripts in Parkinson's disease related to apoptosis? J. Neurochem. 2098–2110 (1997).