CTG triplet repeats from the myotonic dystrophy gene are expanded in escherichia coli distal to the replication origin as a single large event

Journal of Molecular Biology

Volumn 258, Issue 4, 1996, Pages 543-547

  Kang, Seongman ^a,b   Ohshima, Keiichi ^a   Jaworski, Adam ^a,c,d   Wells, Robert D ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF LODZ   (Poland)

^d INSTITUTE OF MEDICAL BIOLOGY   (Poland)

Author keywords

Expansions; Interruption sequences; Mechanism; Slippage; Triplet repeats

Indexed keywords

REPETITIVE DNA; TRINUCLEOTIDE;

ARTICLE; DNA REPLICATION ORIGIN; DNA SEQUENCE; ESCHERICHIA COLI; GENE AMPLIFICATION; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL;

EID: 0029915847     PISSN: 00222836     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmbi.1996.0266     Document Type: Editorial

References (25)

1. Baker, S. M., Bronner, C. E., Zhang, L., Plug, A. W., Robatzek, M., Warren, G., Elliott, E. A., Yu, J., Ashley, T., Arnheim, N,. Flavell, R. A. & Liskay R. M. (1995). Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell, 82, 309-319.
2. Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A. J., Church, D., Aburatani, H., Hunter, K., Stanton, V. P., Thirion, J.-P., Hudson, T., Sohn, R., Zemelman, B., Snell, R. G., Rundle, S. A., Crow, S., Davies, J., Shelbourne, P., Buxton, J., Jones, C., Juvonen, V., Johnson, K., Harper, P. S., Shaw, D. J. & Housman, D. E. (1992). 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.
3. Chung, M.-Y., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y. & Orr, H. T. (1993). Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet. 5, 254-258.
4. Eichler, E. E., Holden, J. J. A., Popovich, B. W., Reiss, A. L., Snow, K., Thiodeau, S. N., Richard, C. S., Ward, P. A. & Nelson, D. L. (1994). Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet. 8, 88-94.
5. Eichler, E. E., Hammond, H. A., Macpherson, J. N., Ward, P. A. & Nelson, D. L. (1995). Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum. Mol. Genet. 4, 2199-2208.
6. Fu, Y.-H., Pizzuti, A., Fenwick, Jr, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M. B., Epstein, H. F. & Caskey C. T. (1992). An unstable triplet repeat in a gene related to myotonic muscular dystrophy Science, 255, 1256-1258.
7. Huntington's Disease Collaborative Research Group. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
8. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D. & Perucho, M. (1993). Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature, 363, 558-561.
9. Jeffreys, A. J., Tamki, K., MacLeod, A., Monckton, D. G., Neil, D. L. & Armour, J. A. L. (1994). Complex gene conversion events in germline mutation at human minisatellites. Nature Genet. 6, 136-145.
10. Kang, S., Jaworski, A., Ohshima, K. & Wells, R. D. (1995a). Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nature Genet. 10, 213-218.
11. Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S. & Wells, R. D. (1995b). Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J. Biol. Chem. 270, 27014-27021.
12. Knight, S. J. L., Flannery A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., Pointon, J., Middleton-Price, H. R., Barnicoat, A., Pembrey M. E., Holland, J., Oostra, B. A., Bobrow, M. & Davies, K. E. (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
13. Kunst, C. B. & Warren, S. T. (1994). Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
14. Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy K., Leblond, S., Earle-MacDonald, J., de Jong, P. J., Wieringa, B. & Korneluk, R. G. (1992). Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
15. Nelson, D. L. (1993). Six human genetic disorders involving mutant trinucleotide repeats. In Genome Analysis (Davies, K. E. & Warren, S. T., eds), vol. 7, pp. 1-24, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
16. Ohshima, K., Kang, S. & Wells, R. D. (1996). CTG triplet repeats from human hereditary diseases are dominant genetic expansion products in E. coli. J. Biol. Chem. 271, 1853-1856.
17. Richards, R. I. & Sutherland, G. R. (1994). Simple repeat DNA is not replicated simply Nature Genet. 6, 114-116.
18. Shibata, D., Peinado, M. A., lonov, Y., Malkhosyan, S. & Perucho, M. (1994). Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nature Genet. 6, 273-281.
19. Thibodeau, S. N., Bren, G. & Schaid, D. (1993). Microsatellite instability in cancer of the proximal colon. Science, 260, 816-819.
20. Trottier, Y., Devys, D., Imbert, G., Saudou, F., An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, E. C. & Mandel, J.-L. (1995). Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10, 104-110.
21. Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., Eussen, B. E., van Ommen, G.-J. B., Blonden, L. A. J., Riggins, G. J., Chastain, J. L., Kunst, C. B., Galjaard, H., Caskey C. T., Nelson, D. L., Oostra, B. A. & Warren, S. T. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
22. Wang, Y.-H., Amirhaeri, S., Kang, S., Wells, R. D. & Griffith, J. D. (1994). Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science, 265, 669-671.
23. n polymorphisms. Genomics, 7, 524-530.
24. Wells, R. D. (1996). Molecular basis of genetic instability of triplet repeats. J. Biol. Chem. 271, 2875-2878.
25. Wells, R. D. & Sinden, R. R. (1993). Defined ordered sequence DNA, DNA structure, and DNA-directed mutation. In Genome Analysis (Davies, K. E. & Warren, S. T., eds), vol. 7, pp. 107-138, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.