Codon repeats in genes associated with human diseases: Fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration

Proceedings of the National Academy of Sciences of the United States of America

Volumn 93, Issue 1, 1996, Pages 417-421

  Djian, Philippe ^a   Hancock, John M ^b   Chana, Harjinder S ^b  

^a CNRS   (France)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUTAMINE; POLYNUCLEOTIDE;

AMINO ACID SUBSTITUTION; ANIMAL MODEL; ARTICLE; CODON; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC DISORDER; HUNTINGTON CHOREA; MACHADO JOSEPH DISEASE; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE REPEAT; POINT MUTATION; PRIMATE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ANIMALS; BASE SEQUENCE; CODON; CONSENSUS SEQUENCE; GENES; GENETIC DISEASES, INBORN; GLUTAMATES; HAPLORHINI; HUMANS; HUNTINGTON DISEASE; MACHADO-JOSEPH DISEASE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; RECEPTORS, ANDROGEN; RNA SPLICING; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPINOCEREBELLAR DEGENERATIONS;

ANIMALIA; PRIMATES;

EID: 0030025601     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.93.1.417     Document Type: Article

References (44)

1. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. (1991) Nature (London) 352, 77-79.
2. Huntington Disease Collaborative Research Group (1993) Cell 72, 971-983.
3. Orr, H. T., Chung, M.-y., Banfi, S., Kwiatkowski, T. J., Jr., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W. & Zoghbi, H. Y. (1993) Nat. Genet. 4, 221-226.
4. Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. & Tsuji, S. (1994) Nat. Genet. 6, 9-13.
5. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. & Kakizuka, A. (1994) Nat. Genet. 8, 221-227.
6. Sambrook, J., Fritsch, E. F. & Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Lab. Press, Plamview, NY).
7. Djian, P. & Green, H. (1989) Proc. Natl. Acad. Sci. USA 86, 8447-8451.
8. Teumer, J. & Green, H. (1989) Proc. Natl. Acad. Sci. USA 86, 1283-1286.
9. Djian, P. & Green, H. (1990) Mol. Biol. Evol. 7, 220-227.
10. Djian, P. & Green, H. (1992) Mol. Biol. Evol. 9, 417-432.
11. Goldberg, Y. P., Andrew, S. E., Clarke, L. A. & Hayden, M. R. (1993) Hum. Mol. Genet. 2, 635-636.
12. Tilley, W. D., Marcelli, M., Wilson, J. D. & McPhaul, M. J. (1989) Proc. Natl. Acad. Sci. USA 86, 327-331.
13. Kovalic, D., Kwak, J.-H. & Weisblum, B. (1991) Nucleic Acids Res. 19, 4560.
14. Andrew, S. E., Goldberg, Y. P., Thellmann, J., Zeisler, J. & Hayden, M. R. (1994) Hum. Mol. Genet. 3, 65-67.
15. Barron, L. H., Rae, A., Holloway, S., Brock, D. J. H. & Warner, J. P. (1994) Hum. Mol. Genet. 3, 173-175.
16. Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, L., et al. (1993) Nat. Genet. 4, 387-392.
17. Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S., Ramesar, R. S., Old, J., Bontrop, R., McMahon, R., Barton, D. E. & Ferguson-Smith, M. A. (1994) Nat. Genet. 7, 525-530.
18. Edwards, A., Hammond, H. A., Jin, L., Caskey, C. T. & Chakraborty, R. (1992) Genomics 12, 241-253.
19. Matilla, T., Volpini, V., Genis, D., Rosell, J., Corral, J., Davalos, A., Mollins, A. & Estivill, X. (1993) Hum. Mol. Genet. 2, 2123-2128.
20. Ranum, L. P., Chung, M.-y., Banfi, S., Bryer, A., Schut, L. J., Ramesar, R., Duvick, L. A., McCall, A., Subramony, S. H., Goldfarb, L., Gomez, C., Sandkuijl, L. A., Orr, H. T. & Zoghbi, H. Y. (1994) Am. J. Hum. Genet. 55, 244-252.
21. Zühlke, C., Riess, O., Bockel, B., Lange, H. & Thies, U. (1993) Hum. Mol. Genet. 2, 2063-2067.
22. Chang, C., Kokontis, J. & Liao, S. (1988) Proc. Natl. Acad. Sci. USA 85, 7211-7215.
23. He, W. W., Fischer, L. M., Sun, S., Bilhartz, D. L., Zhu, X., Young, C. Y.-F., Kelley, D. B. & Tindall, D. J. (1990) Biochem. Biophys. Res. Commun. 171, 697-704.
24. Faber, P. W., King, A., van Rooij, H. C. J., Brinkmann, A. O., de Both, N. J. & Trapman, J. (1991) Biochem. J. 278, 269-278.
25. Lin, B., Nasir, J., MacDonald, H., Hutchinson, G., Graham, R. K., Rommens, J. M. & Hayden, M. R. (1994) Hum. Mol. Genet. 3, 85-92.
26. Pinsky, L., Trifiro, M., Kaufman, M., Beitel, L. K., Mhatre, A., Kazemi-Esfarjani, P., Sabbaghian, N., Lumbrusco, R., Alvarado, C., Vasiliou, M. & Gottlieb, B. (1992) Clin. Invest. Med. 15, 456-472.
27. Wilson, J. D. (1992) Biol. Reprod. 46, 168-173.
28. Zoppi, S., Wilson, C. M., Harbison, M. D., Griffin, J. E., Wilson, J. D., McPhaul, M. J. & Marcelli, M. (1993) J. Clin. Invest. 91, 1105-1112.
29. Wilson, C. M. & McPhaul, M. J. (1994) Proc. Natl. Acad. Sci. USA 91, 1234-1238.
30. Hancock, J. M. (1993) Nucleic Acids Res. 21, 2823-2830.
31. Bingham, P.M., Scott, M. O., Wang, S., McPhaul, M. J., Wilson, E. M., Garbern, J. Y., Merry, D. E. & Fischbeck, K. H. (1995) Nat. Genet. 9, 191-196.
32. Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S., Jain, L., Li, S.-H., Margolis, R. L., Ross, C. & Ferguson-Smith, M. A. (1995) Nat. Genet. 10, 337-343.
33. Hancock, J. (1995) J. Mol. Evol., in press.
34. Eckert, R. L. & Green, H. (1986) Cell 46, 583-589.
35. Green, H. & Djian, P. (1992) Mol. Biol. Evol. 9, 977-1017.
36. Djian, P., Phillips, M., Easley, K., Huang, E., Simon, M., Rice, R. H. & Green, H. (1993) Mol. Biol. Evol. 10, 1136-1149.
37. Stallings, R. L. (1994) Genomics 21, 116-121.
38. Green, H. & Wang, N. (1994) Proc. Natl. Acad. Sci. USA 91, 4298-4302.
39. Hancock, J. M. (1995) in Human Genome Evolution, eds. Jackson, M. S., Dover, G. & Strachan, T. (Bios, Oxford), in press.
40. Chong, S. S., McCall, A. E., Cota, J., Subramony, S. H., Orr, H. T., Hughes, M. R. & Zoghbi, H. Y. (1995) Nat. Genet. 10, 344-350.
41. Green, H. (1993) Cell 74, 955-956.
42. Perutz, M., Johnson, T., Suzuki, M. & Finch, J. T. (1994) Proc. Natl. Acad Sci. USA 91, 5355-5358.
43. Stott, K., Blackburn, J. M., Butler, P. J. G. & Perutz, M. (1995) Proc. Natl. Acad. Sci. USA 92, 6509-6513.
44. Burright, E. N., Clark, H. B., Servadio, A., Matilla, T., Feddersen, R. M., Yunis, W. S., Duvick, L. A., Zoghbi, H. Y. & Orr, H. T. (1995) Cell 82, 937-948.