The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein (original) (raw)

• Fahn, S. Concept and classification of dystonia. Adv. Neurol. 50, 1–8 (1988).
  Article CAS PubMed Google Scholar
• Chutorian, A.M. Childhood dystonia. Acta Neuropediatr. 2, 33–45 (1996).
  Google Scholar
• Nutt, J.G., Muenter, M.D., Aronson, A., Kurland, L.T. & Melton, L.J. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov. Disord. 3, 188–194 (1988).
  Article CAS PubMed Google Scholar
• Bressman, S.B. et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann. Neurol. 36, 771–777 (1994).
  Article CAS PubMed Google Scholar
• Greene, P., Kang, U.J. & Fahn, S. Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 10, 143–152 (1995).
  Article CAS PubMed Google Scholar
• Zeman, W. & Dyken, P. Dystonia musculorum deformans: clinical, genetic and patho-anatomical studies. Psychiatr. Neurol. Neurochir. 10, 77–121 (1967).
  Google Scholar
• Korczyn, A.D. et al. Torsion dystonia in Israel. Ann. Neurol. 8, 387–391 (1980).
  Article CAS PubMed Google Scholar
• Eldridge, R. The torsion dystonia: literature review; genetic and clinical studies. Neurology 20, 1–78 (1970).
  Article CAS PubMed Google Scholar
• Ozelius, L.J. et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am. J. Hum. Genet. 50, 619–628 (1992).
  CAS PubMed PubMed Central Google Scholar
• Risch, N.J. et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46, 533–538 (1990).
  CAS PubMed PubMed Central Google Scholar
• Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9, 152–159 (1995).
  Article CAS PubMed Google Scholar
• Bressman, S.B. et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol. 26, 612–620 (1989).
  Article CAS PubMed Google Scholar
• Ozelius, L. et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2, 1427–1434 (1989).
  Article CAS PubMed Google Scholar
• Kramer, P.L. et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-q34. Ann. Neurol. 27, 114–120 (1990).
  Article CAS PubMed Google Scholar
• Kramer, P.L. et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia (ITD) in non-Jews. Am. J. Hum. Gen. 55, 468–475 (1994).
  CAS Google Scholar
• Ozelius, L.J. et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 7, 483–494 (1997).
  Article CAS PubMed Google Scholar
• Buckler, A.J. et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88, 4005–4009 (1991).
  Article CAS PubMed PubMed Central Google Scholar
• Church, D.M. et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98–105 (1994).
  Article CAS PubMed Google Scholar
• Frohman, M.A., Dush, M.K. & Martin, G.R. Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc Natl. Acad. Sci. USA 85, 8998–9002 (1988).
  Article CAS PubMed PubMed Central Google Scholar
• Kozak, M. An analysis of 5′-noncoding sequences upstream from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15, 8125–8148 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• Almasy, L. et al. Idiopathic torsion dystonia linked to chromosome 8 markers in a family of German Mennonite origin. Neurology (in the press).
• Schirmer, E.C., Glover, J.R., Singer, M.A. & Lindquist, S. HSP100/Clp proteins: a common mechanism explains diverse functions. Trends Biochem. Sci. 21, 289–296 (1996).
  Article CAS PubMed Google Scholar
• Perier, F., Radeke, C.M., Raab-Graham, K.F. & Vandenberg, C.A. Expression of a putative ATPase suppresses the growth defect of a yeast potassium transport mutant: identification of a mammalian member of the Clp/HSP104 family. Gene 152, 157–163 (1995).
  Article CAS PubMed Google Scholar
• Parsell, D.A. & Lindquist, S. The function of heat-shock proteins in stress tolerance: degradation and reactivation of damaged proteins. Annu. Rev. Genet. 27, 437–496 (1993).
  Article CAS PubMed Google Scholar
• Walker, J.E., Sarasti, M., Runswick, M.S. & Gay, N.S. Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold. EMBO J. 1, 945–950 (1982).
  Article CAS PubMed PubMed Central Google Scholar
• Confalonieri, F. & Duguet, M. A 200–amino acid ATPase module in search of a basic function. Bioessays 17, 639–650 (1995).
  Article CAS PubMed Google Scholar
• Missiakas, D., Schwager, F., Betton, J.-M., Georgopoulos, C. & Raina, J. Identification and characterization of HS1V HS1U (CIpQ ClpY) proteins involved in overall proteolysis of misfolded proteins in Escherichia coli. EMBO J. 15, 5899–6909 (1996).
  Article Google Scholar
• Akiyama, Y., Shirai, Y. & Ito, K. Involvement of FtsH in protein assembly into and through the membrane. J. Biol. Chem. 269, 5225–5229 (1994).
  CAS PubMed Google Scholar
• Boyd, D. & Beckwith, J. The role of charged amino acids in the localization of secreted and membrane proteins. Cell 62, 1031–1033 (1990).
  Article CAS PubMed Google Scholar
• Grosson, G.L., Esteban, J., McKenna-Yasek, D., Gusella, J.F. & Brown, R.H. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neurol. Disord. 6, 27–31 (1995).
  Article Google Scholar
• Fontaine, B. et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families. Nature Genet. 6, 267–272 (1994).
  Article CAS PubMed Google Scholar
• Bellus, G.A. et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet. 56, 368–373 (1995).
  CAS PubMed PubMed Central Google Scholar
• Watkins, H. et al. Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am. J. Hum. Genet. 53, 1180–1185 (1993).
  CAS PubMed PubMed Central Google Scholar
• Gusella, J.F., Persichetti, F. & MacDonald, M.E. The genetic defect causing Huntington's disease: repeated in other contexts? Mol. Med. 3, 238–246 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Paulson, H.L. & Fishbeck, K.H. Trinucleotide repeats in neurogenetic disorders. Ann. Rev. Neurosci. 19, 79–107 (1996).
  Article CAS PubMed Google Scholar
• Nygaard, T.G. et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet. 5, 386–391 (1993).
  Article CAS PubMed Google Scholar
• Endo, K. et al. The gene for hereditary progressive dystonia with marked diurnalfluctuation maps to chromosome 14q. in Monographs in Neural Sciences: Age-Related Dopamine-Dependent Disorders (eds Segawa, M. & Nomura, Y.) 120–125 (Karger, New York, 1995).
  Google Scholar
• Ludecke, B., Dworniczak, B. & Bartholome, K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95, 123–125 (1995).
  CAS PubMed Google Scholar
• Knappskog, P.M., Glatmark, T., Mallet, J., Ludecke, B. & Bartholome, K. Recessively inherited L-dopa–responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4, 1209–1212 (1995).
  Article CAS PubMed Google Scholar
• Fink, J.K. et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am. J. Hum. Genet. 59, 140–145 (1996).
  CAS PubMed PubMed Central Google Scholar
• Fouad, G.T., Servidei, S., Durcan, S., Bertini, E. & Ptácek, L.J. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am. J. Hum. Genet. 59, 135–139 (1996).
  CAS PubMed PubMed Central Google Scholar
• Leube, B. et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum. Mol. Genetics 5, 1673–1677 (1996).
  Article CAS Google Scholar
• Wilhelmsen, K.D. et al. Genetic mapping of ‘lubag’ (X-linked dystonia-parkinsonism) is a Filipino kindred to the pericentromeric region of the X chromosomes. Ann. Neurol. 29, 124–131 (1991).
  Article CAS PubMed Google Scholar
• Graeber, M.B., Kupke, K.G. & Muller, U. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc. Natl. Acad. Sci. USA 89, 8245–8248 (1992).
  Article CAS PubMed PubMed Central Google Scholar
• Furukawa, Y., Mizuno, Y. & Narabayashi, H. Early-onset parkinsonism with dystonia: clinical and biochemical differences from hereditary progressive dystonia or dopa-responsive dystonia. Adv. Neurol. 69, 327–337 (1996).
  CAS PubMed Google Scholar
• LeDoux, M.S., Lorden, J.F. & Meinzen-Derr, J. Selective elimination of cerebellar output in the genetically dystonic rat. Brain Res. 697, 91–103 (1995).
  Article CAS PubMed Google Scholar
• Brown, A., Bernier, G., Mathieu, M., Rossant, J. & Kothary, R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genet. 10, 301–306 (1995).
  Article CAS PubMed Google Scholar
• Nobrega, J.N., Richter, A., Burnham, W.M. & Loscher, W. Alterations in the brain GABAA/benzodiazepine receptor-chloride ionophore complex in a genetic model of paroxysmal dystonia: a quantitative autoradiographic analysis. Neuroscience 64, 229–239 (1995).
  Article CAS PubMed Google Scholar
• Nobrega, J.N., Richter, A., Tozman, N., Jiwa, D. & Loscher, W. Quantitative autoradiography reveals regionally selective changes in dopamine D1 and D2 receptor binding in the genetically dystonic hamster. Neuroscience 71, 927–937 (1996).
  Article CAS PubMed Google Scholar
• Pratt, G.D., Richter, A., Mohler, H. & Loscher, W. Regionally selective and age-dependent alterations in benzodiazepine receptor binding in the genetically dystonic hamster. J. Neurochem. 64, 2153–2158 (1995).
  Article CAS PubMed Google Scholar
• Hedreen, J.C., Zweig, R.M., DeLong, M.R., Whitehouse, P.J. & Price, D.L. Primary dystonias: a review of the pathology and suggestions for new directions of study. Adv. Neurol. 50, 123–132 (1988).
  CAS PubMed Google Scholar
• Pooling, E.C. & Adams, R.D. The pathological anatomy of post-hemiplegic athetosis. Brain 98, 29–48 (1975).
  Article Google Scholar
• Bhatia, K.P. & Marsden, C.D. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 117, 859–876 (1994).
  Article PubMed Google Scholar
• Kulisevsky, J., Avilar, A., Rolg, C. & Escartin, A. Unilateral blepharospasm stemming from a thalamomesencephalic lesion. Mov. Disord. 8, 239–240 (1993).
  Article CAS PubMed Google Scholar
• Christian, C.D. & Paulson, G. Severe motility disturbance after small doses of prochlorperazine. N. Engl. J. Med. 259, 828–830 (1958).
  Article CAS PubMed Google Scholar
• Burke, R.E. et al. Tardive dystonia: late onset persistent dystonia caused by antipsychotic drugs. Neurology 32, 1335–1346 (1982).
  Article CAS PubMed Google Scholar
• Tabaddor, K., Wolfson, L.I. & Sharpless, N.S. Diminished ventricular fluid dopamine metabolites in adult onset dystonia. Neurology 79, 1249–1253 (1978).
  Article Google Scholar
• Wolfson, L.I., Sharpless, N.S. & Thai, L.J. Diminished levels of ventricular fluid norpinephrine metabolite and somatostatin in childhood onset dystonia. Adv. Neurol. 50, 177–181 (1988).
  CAS PubMed Google Scholar
• Brashear, A., Farlow, M.R., Butler, I.J., Kasarskis, E.J. & Dobysns, W.B. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov. Disord. 11, 151–156 (1996).
  Article CAS PubMed Google Scholar
• Gasser, T. et al. Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Mov. Disord. 11, 163–166 (1996).
  Article CAS PubMed Google Scholar
• Bressman, S.B. et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 44, 283–287 (1994).
  Article CAS PubMed Google Scholar
• Gusella, J. et al. Precise localization of human beta-globin gene complex on chromosome 11. Proc. Natl. Acad. Sci. USA 76, 5239–5242 (1979).
  Article CAS PubMed PubMed Central Google Scholar
• Anderson, M. & Gusella, J. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (Rockville) 29, 856–858 (1984).
  Google Scholar
• Sambrook, J., Fritsch, E.F. & Maniatis, T. Extraction, purification and analysis of messanger RNA from eukaryotic cells, in Molecular Cloning: A Laboratory Manual. (Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 1989).
  Google Scholar
• Chirgwin, J.M., Przybyla, A.E., MacDonald, R.J. & Rutter, W.J. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18, 5294–5300 (1979).
  Article CAS PubMed Google Scholar
• Newman, P.J. et al. Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. J. Clin. Invest. 22, 739–743 (1988).
  Article Google Scholar
• van Dilla, M.A. & Deaven, L.L. Construction of gene libraries for each human chromosome. Cytometry 11, 208–218 (1990).
  Article CAS PubMed Google Scholar
• Deaven, L.L. et al. Construction of human chromosome-specific DNA libraries from flow-sorted chromosomes. Cold Spring Harb. Symp. Quant Biol. 51, 159–167 (1986).
  Article CAS PubMed Google Scholar
• McCormick, M.K. et al. Construction and characterization of a YAC library with a low frequency of chimeric clones from flow-sorted human chromosome 9. Genomics 18, 553–558 (1993).
  Article CAS PubMed Google Scholar
• Murrell, J. et al. A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig. Genomics 25, 59–65 (1995).
  Article CAS PubMed Google Scholar
• Feinberg, A.P. & Vogelstein, B. Addendum to ‘A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity’. Anal. Biochem. 137, 266–267 (1984).
  Article CAS PubMed Google Scholar
• Apte, A.N. & Siebert, P.O. Anchor-ligated cDNA libraries: a technique for generating a cDNA library for the immediate cloning of the 5′ ends of mRNAs. Biotechniques 15, 890–893 (1993).
  CAS PubMed Google Scholar
• Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989).
  Article CAS PubMed Google Scholar
• Hayashi, K. & Yandell, D.W. How sensitive is PCR-SSCP? Hum. Mutat. 2, 338–346 (1993).
  Article CAS PubMed Google Scholar