Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA) (original) (raw)

• Naito, H. & Oyanagi, S. Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy. Neurology 32, 798–807 (1982).
  Article CAS PubMed Google Scholar
• Takahashi, H. et al. Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family. Neurology 38, 1065–1070 (1988).
  Article CAS PubMed Google Scholar
• Sano, A. et al. Anticipation in dentatorubropallidoluysian atrophy. Hum. Genet. 93, 699–702 (1994).
  Article CAS PubMed Google Scholar
• Smith, J.K., Gonda, V.E. & Malamud, N. Unusual form of cerebellar ataxia: Combined dentatorubral and pallido-Luysian degeneration. Neurology 8, 205–209 (1958).
  Article CAS PubMed Google Scholar
• Warner, T.T., Williams, L. & Harding, A.E. DRPLA in Europe. Nature Genet. 6, 225 (1994).
  Article CAS PubMed Google Scholar
• Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable GAG trinucleotide on chromosome 12p. Nature Genet. 6, 14–18 (1994).
  Article CAS PubMed Google Scholar
• Li, S.-H., Mclnnis, M.G., Margolis, R.L., Antonarakis, S.E. & Ross, C.A. Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms. Genomics 16, 572–579 (1993).
  Article CAS PubMed Google Scholar
• Koide, R. et al. Unstable expansion of GAG repeat in hereditary dentatorubral-pallidoluysian atrophy(DRPLA). Nature Genet. 6, 9–13 (1994).
  Article CAS PubMed Google Scholar
• LaSpada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E.K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991).
  Article CAS Google Scholar
• Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67, 1047–1058 (1991).
  Article CAS PubMed Google Scholar
• Knight, S.J.L. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127–134 (1993).
  Article CAS PubMed Google Scholar
• Mahadevan, M. et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253–1255 (1992).
  Article CAS PubMed Google Scholar
• Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256–1258 (1992).
  Article CAS PubMed Google Scholar
• Brook, J.D. et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799–808 (1992).
  Article CAS PubMed Google Scholar
• 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 PubMed Google Scholar
• Phillips, K.L., Gartrell, D.M., Roses, A.D. & Lee, J.E. A triplet repeat polymorphism in a gene expressed in human hypothalamus. Hum. molec. Genet. 2, 1332 (1993).
  Article CAS PubMed Google Scholar
• Kozak, M. Structural features in eukaryotic mRNAs that modulate the initiation of translation. J. biol. Chem. 266, 19867–19870 (1991).
  CAS PubMed Google Scholar
• Gieser, L. & Swaroop, A. Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library. Genomics 13, 873–876 (1992).
  Article CAS PubMed Google Scholar
• Adams, M.D. et al. Sequence identification of 2,375 human brain genes. Nature 355, 632–634 (1992).
  Article CAS PubMed Google Scholar
• Phillips, S.C. & Turner, P.C. A transcriptional analysis of the gene encoding mouse U7 small nuclear RNA. Gene 116, 181–186 (1992).
  Article CAS PubMed Google Scholar
• Karlin, S., Blaisdell, B.E., Mocarski, E.S. & Brendel, V. A method to identify distinctive charge configurations in protein sequences with application to human herpesvirus polypeptides. J. molec. Biol. 205, 165–177 (1989).
  Article CAS PubMed Google Scholar
• Mowry, K.L. & Steitz, J.A. Identification of the human U7 snRNP as one of several factors involved in the 3′ end maturation of histone premessenger RNA's. Science 238, 1682–1687 (1987).
  Article CAS PubMed Google Scholar
• Gerber, H.-P. et al. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science. 263, 808–811 (1994).
  Article CAS PubMed Google Scholar
• He, W.W. et al. Molecular cloning of androgen receptors from divergent species with polymerase chain reaction: complete cDNA sequence of the mouse androgen receptor and isolation of androgen receptor cDNA probes from dog, guinea pig, and clawed frog. Biochem. Biophys. res. Comm. 171, 697–704 (1990).
  Article CAS PubMed Google Scholar
• Tan, J. et al. The rat androgen receptor: Primary structure, autoregulation of its messenger ribonucleic acid, and immunocytochemical localization of the receptor protein. Molec. Endocrinol. 2, 1276–1285 (1988).
  Article CAS Google Scholar
• Zahler, A.M., Lane, W.S., Stolk, J.A. & Roth, M.B. SR proteins: a conserved family of pre-mRNA splicing factors. Genes Dev. 6, 837–847 (1992).
  Article CAS PubMed Google Scholar
• Wu, J.Y. & Maniatis, T. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. Cell 75, 1061–1070 (1993).
  Article CAS PubMed Google Scholar
• Query, C.C., Bentley, R.C. & Keene, J.D. A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein. Cell 57, 89–101 (1989).
  Article CAS PubMed Google Scholar
• Surowy, C., Hoganson, G., Gosink, J., Strunk, K. & Spritz, R.A. The human ‘RD’ protein is closely related to a number of nuclear RNA-binding proteins and has been highly conserved. Gene 90, 299–302 (1990).
  Article CAS PubMed Google Scholar
• Rokeach, L.A., Jannatipour, M., Haselby, J.A. & Hoch, S.A. Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis. J. biol. Chem. 264, 5024–5030 (1989).
  CAS PubMed Google Scholar
• Zhang, M., Zamore, P.O., Carmo-Fonseca, M., Lamond, A.I. & Green, M.R. Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. Proc. natn. Acad. Sci. U.S.A. 89, 8769–8773 (1992).
  Article CAS Google Scholar
• Higashijima, S. et al. Dual Bar homeo box genes of Drosophila required in two photoreceptor cells, R1 and R6, and primary pigment cells for normal eye development. Genes Dev. 6, 50–60 (1992).
  Article CAS PubMed Google Scholar
• Tkachuk, D.C., Kohler, S. & Cleary, M.L. Involvement of a homolog of Drosophila trithorax by 11 q23 chromosomal translocations in acute leukemias. Cell 71, 691–700 (1992).
  Article CAS PubMed Google Scholar
• Di Carlo, M., Montana, G., Romancino, D.P. & Monteleone, D. A mouse repeat sequence conserved in eukaryotic genomes. J. submicrosc. Cytol. Pathol. 24, 467–472 (1992).
  CAS PubMed Google Scholar
• Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular cloning: a laboratory manual 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
  Google Scholar
• Banfi, S. et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 7, 513–520 (1994).
  Article CAS PubMed Google Scholar