Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

Genome Research

Volumn 7, Issue 5, 1997, Pages 483-494

  Ozelius, Laurie J ^a   Hewett, Jeffrey ^a   Kramer, Patricia ^d   Bressman, Susan B ^b   Shalish, Christo ^a   De Leon, Deborah ^b   Rutter, Marc ^a   Risch, Neil ^c   Brin, Mitchell F ^g   Markova, Elena D ^e   Limborska, Svetlana A ^f   Ivanova Smolenskaya, Irina A ^e   McCormick, Mary Kay ^a   Fahn, Stanley ^b   Buckler, Alan J ^a   Gusella, James F ^a   Breakefield, Xandra O ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c STANFORD UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^f INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^g MOUNT SINAI HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASAL GANGLION; CHROMOSOME 9Q; CHROMOSOME MAP; CONTROLLED STUDY; DYSKINESIA; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NEUROTRANSMISSION; ONSET AGE; PENETRANCE; PRIORITY JOURNAL; TORSION DYSTONIA;

EID: 15144348731     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.5.483     Document Type: Article

References (44)

1. Albertsen, H.M., H. Abderrahim, H.M. Cann, J. Dausset, D. Le Paslier, and D. Cohen. 1990. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. 87: 4256-4260.
2. Anderson, M. and J. Gusella. 1984. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 29: 856-858.
3. Bengtsson, B.O. and G. Thomson. 1981. Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens 18: 356-363.
4. Breakefield, X.O., S.B. Bressman, P.L. Kramer, L. Ozelius, C. Moskowitz, R. Tanzi, M.F. Brin, W. Hobbs, D. Kaufman, K.K. Kidd et al. 1986. Linkage analysis in a family with dominantly-inherited torsion dystonia: Exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromsomal regions using DNA polymorphisms. J. Neurogenetics 3: 159-175.
5. Bressman, S.B., D. deLeon, M.F. Brin, N. Risch, R.E. Barke, P.E. Greene, H. Shale, and S. Fahn. 1989. Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance. Ann. Neurol. 26: 612-620.
6. Bressman, S.B., M.S. Heiman, T.G. Nygaard, L.O. Ozelius, A. Hunt, M.F. Brin, M.F. Gordon, C.B. Moskowitz, D. deLeon, R.E, Burke, S. Fahn, N.J. Risch, X.O. Breakefield, and P.L. Kramer. 1994a. A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity. Neurology 44: 283-287.
7. Bressman, S.B., M.S. de Leon, P.L. Kramer, L.J. Ozelius, M.F. Brin, P.E. Greene, S. Fahn, X.O. Breakefield, and N.J. Risch. 1994b. Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation. Ann. Neurol. 36: 771-777.
8. Dobyns, W.B., L.J. Ozelius, P.L. Kramer, A. Brashear, M.R. Farlow, T.R. Perry, L.E. Walsh, E.J. Kasarskis, I.J. Butler, and X.O. Breakefield. 1993. Rapid-onset dystonia-parkinsonism. Neurology 43: 2596-2602.
9. Eldridge, R. 1970. The torsion dystonias. Literature review: Genetic and clinical studies. Neurology 20: 1-78.
10. Endo, K., H. Tanaka, M. Saito, S. Tsuji, T.G. Nygaard, D.E. Weeks, Y. Normura, and M. Segawa. 1995. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Monographs in neural sciences. In Age-related dopamine-dependent disorders (ed. M. Segawa and Y. Nomura), pp. 120-125. Karger Publishers, New York, NY.
11. Fahn, S. 1988. Concept and classification of dystonia. Adv. Neurol. 50: 1-8.
12. Feinberg, A.P. and B. Vogelstein. 1984. Addendum to "A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity." Anal. Biochem. 137: 266-267.
13. Fink, J.K., S. Rainier, J. Wilkowski, S.M. Jones, A. Kume, P. Hedera, R. Albin, J. Mathay, L. Girbach, T. Varvil, B. Otterud, and M. Leppert. 1996. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q. Am. J. Hum. Genet. 59: 140-145.
14. Fouad, G.T., S. Servidei, S. Durcan, E. Bertini, and L.J. Ptacek. 1996. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am. J. Hum. Genet. 59: 135-139.
15. Forsgren, L., G. Holmgren, B.G.L. Almay, and U. Drugge. 1988. Autosomal dominant torsion dystonia in a Swedish family. Adv. Neurol. 50: 83-92.
16. Gasser, T., S. Fahn, and X.O. Breakefield. 1992. The autosomal dominant dystonia. Brain Pathol. 2: 297-308.
17. Gusella, J., A. Varsanyi-Breiner, F.I. Kao, C. Jones, T.T. Puck, C. Keys, S. Orkin, and D. Housman. 1979. Precise localization of human beta-globin gene complex on chromosome 11. Proc. Natl. Acad. Sci. 76: 5239-5242.
18. Hastbacka, J., A. de la Chapelle, M.M. Mahtani, G. Clines, M.P. Reeve-Daly, M. Daly, B.A. Hamilton, K. Kusumi, B. Trivedi, and A. Weaver. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: Postional cloning by fine-structure linkage disequilibrium mapping. Cell 78: 1073-1087.
19. Henske, E., L. Ozelius, J. Gusella, J. Haines, and D. Kwiatkowski. 1993. A high-resolution linkage map of human 9q34.1. Genomics 17: 587-591.
20. Hermanson, G.G., M.F. Hoekstra, D.L. McElligott, and G.A. Evans. 1991. Rescue of end fragment of yeast artificial chromosomes by homologous recombination in yeast. Nucleic Acids Res. 19: 4943-4948.
21. Ichinose, H., T. Ohye, E. Takahashi, N. Seki, T. Hori, M. Segawa, Y. Nomura, K. Endo, H. Tanaka, S. Tsuji, K. Fujita, and T. Nagatsu. 1994. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet. 8: 236-242.
22. Korczyn, A.D., E. Kahana, N. Zilber, M. Streifler, R. Carasso, and M. Alter. 1980. Torsion dystonia in Israel. Ann. Neurol. 8: 387-391.
23. Kramer, P.L., D. deLeon, L. Ozelius, N. Risch, S.B. Bressman, M.F. Brin, D.E. Schuback, H. Shale, J.F. Gusella, X.O. Breakefield, and S. Fahn. 1990. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-q34. Ann. Neurol. 27: 114-120.
24. Kramer, P., S. Bressman, L. Ozelius, S. Fahn, and X.O. Breakefield. 1995. The genetics of dystonia. In Handbook of dystonia (ed. J. Tsui and D. Calne), pp.43-58. Marcel Dekker, New York, NY.
25. Kramer, P., G. Heiman, T. Gasser, L. Ozelius, D. de Leon, M. Brin, R. Burke, J. Hewett, A. Hunt, A. Moskowitz, T. Nygaard, K. Wilhelmsen, S. Fahn, X.O. Breakefield, N. Risch, and S. Bressman. 1994. The DYT1 gene on 9q34 is responsible for most cases of early-onset idiopathic torsion dystonia (ITD) in non-Jews. Am. J. Hum. Gen. 55: 468-475.
26. Kurlan, R., J. Behr, L. Medved, and I. Shoulson. 1988. Myoclonus and dystonia: A family study. Adv. Neurol. 50: 385-390.
27. Kwiatkowski, D.J., E.P. Henske, K. Weimer, L. Ozelius, J.F. Gusella, and J. Haines. 1992. Construction of a GT polymorphism map of human 9q. Genomics 12: 229-240.
28. Kyllerman, M., L. Forsgren, G. Sanner, G. Holmgren, J. Wahlstrom, and U. Drugge. 1990. Alcohol-responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation. Movement Disorders 5: 270-279.
29. Leube, B., D. Rudnicki, T. Ratzlaff, K.R. Kessler, R. Benecke, and G. Auburger. 1996. 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. Genet. 5: 1673-1678.
30. MacDonald, M.E., A. Novelletto, C, Lin, D. Tagle, E. Barnes, G. Bates, S. Taylor, B. Allitto, M. Altherr, R. Myers et al. 1992. The Huntington's disease candidate region exhibits many different haplotypes. Nature Genet. 1: 99-103.
31. Marsden, C.D., J.A. Obeso, J.J. Zarranz, and A.E. Lang. 1985. The anatomical basis of symptomatic hemidystonia. Brain 108: 463-483.
32. McCormick, M.K., J.S. Shero, C. Connelly, P. Hieter, and S.E. Antonarakis. 1990. Methods for cloning large DNA segments as artificial chromosomes in S. cerevisiae. Technique 2: 65-71.
33. McCormick, M.K., A. Buckler, W. Bruno, E. Campbell, K. Shera, D. Torney, T.L. Deaven, and R. Moyzis. 1993. Construction and characterization of a YAC library with a low frequency of chimeric clones from flow-sorted human chromosome 9. Genomics 18: 553-558.
34. Murrell, J., J. Trofatter, M. Rutter, S. Cutone, C. Stotler, J. Rutter, K. Long, A. Turner, L. Deaven, A. Buckler, and M.K. McCormick. 1995. A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig. Genomics 25: 59-65.
35. Nygaard, T., K. Wilhelmsen, N. Risch, D. Brown, J. Trugman, C. Gilliam, S. Fahn, and D.E. Weeks. 1993. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet. 5: 386-391.
36. Ozelius, L., P.L. Kramer, C.B. Moskowitz, D.J. Kwiatkowski, M.F. Brin, S.B. Bressman, D.E. Schuback, C.T. Falk, N. Risch, D. deLeon et al. 1989. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2: 1427-1434.
37. Ozelius, L., P. Kramer, D. deLeon, N. Risch, S.B. Bressman, D.E. Schuback, M.F. Brin, D.J. Kwiatkowski, R.E. Burke, F.J. Gusella, S. Fahn, and X.O. Breakefield. 1992a. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am. J. Hum. Genet. 50: 619-628.
38. Ozelius, L.J., D.J. Kwiatkowski, D.E. Schuback, X.O. Breakefield, J.F. Gusella, and J.L. Haines. 1992b. A genetic linkage map of human chromosome 9q. Genomics 14: 715-720.
39. Risch, N., S.B. Bressman, and D. deLeon, M.F. Brin, R.E. Burke, P.E. Greene, H. Shale, E.B. Claus, L.A. Cupples, and S. Fahn. 1990. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46: 533-538.
40. Risch, N., D. de Leon, L. Ozelius, P. Kramer, L. Almasy, B. Singer, S. Fahn, X.O. Breakefield, and S. Bressman. 1995. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9: 152-159.
41. Shero, J., M.K. McCormick, S.E. Antonarakis, and P. Hieter. 1991. Yeast artificial chromosome vectors for efficient clone manipulation and mapping. Genomics 10: 505-508.
42. Van Dilla, M.A. and L.L. Deaven. 1990. Construction of gene libraries for each human chromosome. Cytometry 11: 208-218.
43. Weissenbach, J., G. Gyapay, C. Dib, A. Vignal, J. Morissette, P. Millasseau, G. Vaysseix, and M. Lathrop. 1992. A second-generation linkage map of the human genome. Nature 359: 794-801.
44. Zeman, W. and P. Dyken. 1967. Dystonia musculorum deformans: Clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir. 70: 77-121.