The myotonic dystrophy gene

Archives of Neurology

Volumn 50, Issue 11, 1993, Pages 1173-1179

  Pizzuti, Antonio ^a   Friedman, David L ^a   Caskey, C Thomas ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE; REPETITIVE DNA;

DNA DETERMINATION; GENE ISOLATION; GENETIC LINKAGE; HUMAN; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN SYNTHESIS REGULATION; REVIEW;

AMINO ACID SEQUENCE; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; MYOTONIC DYSTROPHY; PROTEIN KINASES; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0027376976     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.1993.00540110053005     Document Type: Article

References (55)

1. Mohr J. Estimation of linkage between the Lutheran and the Lewis blood groups. Acta Pathol Microbiol Scand. 1951;29:339-344.
2. Harper PS, Rivas ML, Bias WB, et al. Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and the Lutheran blood group Ioci. Am J Hum Genet. 1972;24:310-316.
3. Renwick JH, Bundey S, Ferguson-Smith MA, et al. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet. 1971;8:407-415.
4. Withehead AS, Solomon E, Chambers S, et al. Assignment of the structural gene for the third component of the human complement to chromosome 19. Proc Natl Acad Sci U S A. 1982;79:5021-5025.
5. Eiberg H, Mohr J, Nielsen L, et al. Genetic and linkage relationships of the C3 polymorphism. Clin Genet. 1983;24:159-170.
6. Ashizawa T, Hejtmancik JF. Myotonic dystrophy. Curr Neurol. 1990;10:27-62.
7. Shutler G, MacKenzie AE, Brunner H, et al. Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy. Genomics. 1991;9:500-504.
8. Johnson K, Shelbourne P, Davies J, et al. A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet. 1990;46:1073-1081.
9. Smeets HJM, Hermens R, Brunner HG, et al. Identification of variable simple sequence motifs in 19q13.2-qter. Genomics. 1991;9:257-263.
10. Harley HG, Brook JD, Floyd J, et al. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet. 1991;49:68-75.
11. Jansen G, de Jong PJ, Amemiya C, et al. Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics. 1992; 13:509-517.
12. Shutler G, Korneluk RG, Tsilfidis C, et al. Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region. Genomics. 1992;23:518-525.
13. Buxton J, Shelbourne P, Davies J, et al. Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19. Genomics. 1992;13:526-531.
14. Harley HG, Brook DJ, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355:545-546.
15. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992;355:547-548.
16. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 1992;355:548-551.
17. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992; 255:1253-1256.
18. Brook JD, McCurrach M, Harley HG, 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. 1992;68:799-808.
19. Fu YH, Pizzuti A, Fenwick RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255:1256-1258.
20. Edwards A, Civitello A, Hammond HA. Caskey CT. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991;49:746-756.
21. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989;44:388-396.
22. Tautz D. Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res. 1989;17:6463-6471.
23. Jeffreys AJ, Wilson W. Thein SL. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985;314:67-73.
24. Riggins JG, Lokey LK, Chastain JL, et al. Human genes containing polymorphic trinucleotide repeats. Nature Genet. 1992;2:186-191.
25. Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a break-point cluster region exhibiting length variation in fragile-X syndrome. Cell. 1991;65:905-914.
26. Brown CJ, Goss SJ, Lubahn DB, et al. Androgen receptor locus on the human × chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet. 1989;44:264-269.
27. Lubahn DB, Joseph DR, Sullivan PM, et al. Cloning of human androgen receptor and localization on the X-chromosome. Science. 1988;240:327-330.
28. Chang C, Kokontis J, Liao S. Molecular cloning of human and rat cDNAs encoding androgen receptors. Science. 1988;86:324-326.
29. Tilley WD, Marcelli M, Wilson JD. Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A. 1989;8:327-331.
30. La Spada A, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutation in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352:77-79.
31. 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. 1993;72:971-983.
32. Fu YH, Friedman DL, Richards S, et al. Varying expression of myotonin-protein kinase mRNA and protein levels in the adult form of myotonic dystrophy. Science. 1993;72:971-983.
33. Mahadevan SM, Amemiya C, Jansen G, et al. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet. 1993;2:299-304.
34. Jansen G, Mahadevan M, Amemiya C, et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet. 1992;1:261-266.
35. Harper PS. Myotonic Dystrophy. 2nd ed. Philadelphia, Pa: WB Saunders Co; 1989.
36. Davies J, Yamagata H, Shelbourne P, et al. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Med Genet. 1992;29:766-769.
37. Brunner HG, Nillesen W, van Oost BA, et al. Presymptomatic diagnosis of myotonic dystrophy. J Med Genet. 1992;29:780-784.
38. Shelbourne P, Winqvist R, Kunert E, et al. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet. 1992;1:467-473.
39. Caskey CT, Pizzuti A, Fu YH, Fenwick RG, Nelson DL. Triplet repeat mutations in human disease. Science. 1992;256:784-789.
40. Ashizawa T, Dubel JR, Dunne PW, et al. Anticipation in myotonic dystrophy: complex relationships between clinical findings and structure of the GCT repeat. Neurology. 1992;42:1877-1883.
41. Redman JB, Fenwick RG Jr, Fu HY, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993;269:1960-1965.
42. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med. 1993;328:471-475.
43. Fu HY, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile-X site reveals genetic instability. Cell. 1991;67:1047-1058.
44. Novelli G, Gennarelli M, Zelano G, et al. Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle. Biochem Mol Biol Int. 1993;29:291-297.
45. Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1992;1:192-195.
46. Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology. In press.
47. Novelli G, Gennarelli M, Menegazzo E, et al. (CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients. Biochem Med Metab Biol. In press.
48. Harper PS. Phenotypic variation in myotonic dystrophy: causes and consequences. In: Rowland LP, ed. Pathogenesis of Human Muscular Dystrophies. Amsterdam, the Netherlands: Excerpta Medica; 1977:705-712.
49. Penrose LS. The problem of anticipation in pedigrees of dystrophia myotonica. Ann Eugen. 1948;14:125-232.
50. Dyken PR. The changing syndromes of dystrophia myotonica. Neurology. 1969; 19:292.
51. Caughey JE, Myrianthopoulos NC. Dystrophia Myotonica and Related Disorders. Springfield, Ill: Charles C Thomas Publisher; 1963.
52. Howeler CJ, Busch HFM, Geraedts JPM, Niermeij MF, Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain. 1989;12:779-797.
53. Ashizawa T, Dunne CJ, Dubel JR, et al. Anticipation in myotonic dystrophy: statistical verification based on clinical and haplotype findings. Neurology. 1992; 42:1872-1877.
54. Brunner HG, Jansen G, Nillesen W, et al. Reverse mutation in myotonic dystrophy. N Engl J Med. 1993;328:476-480.
55. Lavedan C, Hofmann-Radvanyi H, Rabes JP, Roume J, Junien C. Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet. 1993;341:237.