Are only repeated triplets guilty?

Journal of Theoretical Biology

Volumn 194, Issue 1, 1998, Pages 125-142

  De Fonzo, Valeria ^a   Bersani, Enrico ^a   Aluffi Pentini, Filippo ^b   Castrignanò, Tiziana ^a   Parisi, Valerio ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ARTICLE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0032494147     PISSN: 00225193     EISSN: None     Source Type: Journal    
DOI: 10.1006/jtbi.1998.0753     Document Type: Article

References (58)

1. ALECK, K. A. & HADRO, T. A. (1989). Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of "unstable premutation" through carrier women. Am. J. Med. Genet. 33, 155-160.
2. ALTSCHUL, S. F. & ERICKSON, B. W. (1986). Optimal sequence alignment using affine gap costs. Bull. Math. Biol. 48, 603-616.
3. ANKER, R., STEINBRUECK, T. & DONÏS-KELLER, H. (1992). Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus. Hum. Mol. Genet. 1, 137-137.
4. BARINAGA, M. (1996). An intriguing new lead on Huntington's disease. Science 271, 1233-1234.
5. BELL, G. I., KARAM, J. H. & RUTTER, W. J. (1981). Polymorphic DNA region adjacent to the 5-prime end of the human insulin gene. Proc. Natl. Acad. Sci. U.S.A. 78, 5759-5763.
6. BELLMAN, R. E. (1957). Dynamic Programming. Princeton, NJ: Princeton University Press. Serial T-267.
7. BIKKER, H., BAAS, F. & DE VIJLDER, J. J. (1991). Structure and characterization of a 50 bp VNTR in intron 10 of the human thyroid peroxidase gene. GenBank (ACCESSION M68651, 30-May-1991).
8. BROOKS, B. P., PAULSON, H. L., MERRY, D. E., SALAZAR-GRUESO, E. F., BRINKMANN, A. O., WILSON, E. M. & FISCHBECK, K. H. (1997). Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiol. Dis. 4, 313-323.
9. BURN, T. C., CONNORS, T. D., DACKOWSKI, W. R., PETRY, L. R., VAN RAAY, T. J., MILLHOLLAND, J. M., VENET, M., MILLER, G., HAKIM, R. M., LANDES, G. M., KLINGER, K. W., QIAN, F., ONUCHIC, L. F., WATNICK, T., GERMINO, G. G. & DOGGETT, N. A. (1995). Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum. Mol. Genet. 4, 575-582.
10. 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). SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948.
11. CAMPBELL, T. A., PALMER, M. S., WILL, R. G., GIBB, W. R., LUTHERT, P. J. & COLLINGE, J. (1996). A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. Neurology 46, 761-766.
12. CASANA, P., MARTINEZ, F., AZNAR, J. A., LORENZO, J. I. & JORQUERA, J. I. (1995). Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene. Haemostasis 25, 264-271.
13. CHAN, S. C., WONG, A. K. C. & CHIU, D. K. Y. (1992). A survey of multiple sequence comparison methods. Bull. Math. Biol. 54, 563-598.
14. CHEHAB, F. F., JOHNSON, J., LOUIE, E., GOOSSENS, M., KAWASAKI, E. & ERLICH, H. (1991). A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin. J. Hum. Genet. 48, 223-226.
15. CHIKUBA, N., AKAZAWA, S., YAMAGUCHI, Y., KAWASAKI, E., TAKINO, H., TAKAO, Y., MAEDA, Y., OKUNO, YAMAMOTO, S. H. & YOKOTA, A. (1992). Type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune thyroid disease in Japan. Jpn. J. Med. 31, 1076-1080.
16. DAYHOFF, M. O., SCHWARTZ, R. M. & ORCUTT, B. C. (1978). A model of evolutionary change in proteins. In: Atlas of Protein Sequence and Structure, Vol. 5, suppl. 3, pp. 345-352. Washington: National Biomedical Research Foundation.
17. DERRY, J. M. J., OCHS, H. J. & FRANCKE, U. (1994). Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78, 635-644.
18. GOLTSOV, A. A., EISENSMITH, R. C., KONECKI, D. S., LÏCHTER-KONECKI, U. & WOO, S. L. (1992). Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 51, 627-636.
19. GOLTSOV, A. A., EISENSMITH, R. C., NAUGHTON, E. R., JIN, L., CHAKRABORTY, R. & WOO, S. L. C. (1993). A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum. Mol. Genet. 2, 577-577.
20. HARRIS, P. C., WARD, C. J., PERAL, B. & HUGHES, J. (1995). Autosomal dominant polycystic kidney disease: molecular analysis. Hum. Mol. Genet. 4, 1745-1749.
21. HASHIDA, H., GOTO, J., KURISAKI, H., MIZUSAWA, H. & KANAZAWA, I. (1997). Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Ann. Nenrol. 41, 505-511.
22. HUANG, L. S., RIPPS, M. E., KORMAN, S. H., DECKELBAUM, R. J. & BRESLOW, J. L. (1989). Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. J. Biol. Chem. 264, 11394-11400.
23. LAPLANCHE, J. L., DELASNERIE-LAUPRETRE, N., BRANDEL, J. P., DUSSAUCY, M., CHATELAIN, J. & LAUNAY, J. M. (1995). Two novel insertions in the prion protein gene in patients with late-onset dementia. Hum. Mol. Genet. 4, 1109-1111.
24. LA SPADA, A. R., PAULSON, H. L. & FISHBECK, K. H. (1994). Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 36, 814-822.
25. LAVEDAN, C. N., GARRETT, L. & NUSSBAUM, R. L. (1997). Trinucleotide repeats (CGG)22TGG(CGG)43TGG-(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum. Genet. 100, 407-414.
26. LEE, M.-H., REYNISDOTTIR, I. & MASSAGUE, J. (1995). Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev. 9, 639-649.
27. LINDBLAD, K., SAVONTAUS, M.-L., STEVANIN, G., HOLMBERG, M., DIGRE, K., ZANDER, C., EHRSSON, H., DAVID, G., BENOMAR, A., NIKOSKELAINEN, E., TROTTIER, Y., HOLMGREN, G., PTACEK, L. J., ANTTINEN, A., BRICE, A. & SCHALLING, M. (1996). An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Research 6, 965-971.
28. LUDWIG, E. H., FRIEDL, W. & MCCARTHY, B. J. (1989). High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am. J. Hum. Genet. 45, 458-464.
29. MARKOPOULOU, K., WSZOLEK, Z. K. & PFEIFFER, R. F. (1995). A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann. Neurol. 38, 373-378.
30. n repeat during human fetal development. Hum. Mol. Genet. 6, 877-880.
31. MIZUNO, T. & YUGARI, Y. (1975). Prophylactic effect of L-5-hydroxytryptophan on self-mutilation in the Lesch-Nyhan syndrome. Neuropädiatrie 6, 13-23.
32. MORRIS, C. P., GUO, X. H., APOSTOLOU, S., HOPWOOD, J. J. & SCOTT, H. S. (1994). Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics 22, 652-654.
33. NEEDLEMAN, S. B. & WUNSCH, C. D. (1970). A general method applicable to the search for similarities in the amino acid sequence of two proteins. J. Mol. Biol. 48, 443-453.
34. NÉRI, C., ALBANESE, V., LEBRE, A. S., HOLBERT, S., SAADA, C., BOUGUELERET, L., MEIER-EWERT, S., LE GALL, I., MILLASSEAU, P., BUI, H., GIUDICELLI, C., MASSART, C., GUILLOU, S., GERVY, P., POULLIER, E., RIGAULT, P., WEISSENBACH, J., LENNON, G., SCHUMAKOV, I., DAUSSET, J., LEHRACH, H., COHEN, D. & CANN, H. M. (1996). Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders. Hum. Mol. Genet. 5, 1001-1009.
35. NEUFELD, E. F. & MUENZER, J. (1995). The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds), pp. 2485-2494. New York: McGraw-Hill.
36. O'BRIEN, S., EVEN, D. A. & MURRAY, J. C. (1997). Complex trinucleotide repeat polymorphism in the HOX B6 gene. Hum. Mutat. 9, 280-281.
37. OGILVIE, A. D., BATTERSBY, S., BUBB, V. J., FINK, G., HARMAR, A. J., GOODWIN, G. M. & DALE SMITH, C. A. (1996). Polymorphism in serotonin transporter gene associated with susceptibility to major depression. The Lancet 347, 731-733.
38. 2+ channel gene CACNL1A4. Cell 87, 543-552.
39. PARISI, V., DE FONZO, V. & BERSANI, E. (1997). Unstable trinucleotide repeats in Alzheimer's Disease? Exp. Neurol. 148, 393-393.
40. REIK, W., BROWN, K. W., SCHNEID, H., LE BOUC, Y., BICKMORE, W. & MAHER, E. R. (1995). Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4, 2379-2385.
41. RICHARDS, R. I. & SUTHERLAND, G. R. (1992). Dynamic mutations: a new class of mutations causing human disease. Cell 70, 709-712.
42. SADLER, J. R., WATERMAN, M. S. & SMITH, T. F. (1983). Regulatory pattern identification in nucleic acid sequences. Nucleic Acid Res. 11, 2221-2231.
43. SANJEEVA REDDY, P. & HOUSMAN, D. E. (1997). The complex pathology of trinucleotide repeats. Curr. Opin. Cell Biol. 9, 364-372.
44. SANO, A., KONDOH, K., KAKIMOTO, Y. & KONDO, I. (1993). A 40-nucleotide repeat polymorphism in the human dopamine transporter gene. Hum. Genet. 91, 405-406.
45. SCOTT, H. S., NELSON, P. V., MACDONALD, M. E., GUSELLA, J. F., HOPWOOD, J. J. & MORRIS, C. P. (1992). An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics 14, 1118-1120.
46. SHERMAN, S. L., MORTON, N. E., JACOBS, P. A. & TURNER, G. (1984). The marker (X) syndrome: a cytogenetic and genetic analysis. Ann. Hum. Genet. 48, 2137-2137.
47. SHERMAN, S. L., JACOBS, P. A., MORTON, M. E., FROSTER-ISKENIUS, U., HOWARD-PEEBLES, P. N., NIELSEN, K. B., PARTINGTON, N. W., SUTHERLAND, G. R., TURNER, G. & WATSON, H. (1985). Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69, 289-299.
48. SMITH, T. F. & WATERMAN, M. S. (1981). Identification of common molecular subsequences. J. Mol. Biol. 147, 195-197.
49. STANDEN, G. R., BIGNELL, P., BOWEN, D. J., PEAKE, R. & BLOOM, A. L. (1990). Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence. Br. J. Haematol. 76, 242-249.
50. SUTHERLAND, G. R. & RICHARDS, R. I. (1995). Simple tandem DNA repeats and human genetic disease. Proc. Natl. Acad. Sci. U.S.A. 92, 3636-3641.
51. TORINO, T., URANO, T., FURUHATA, T., MATSUSHIMA, M., MIYATSU, T., SASAKI, S. & NAKAMURA, Y. (1996). Characterization of the human p57 (KIP2) gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. Hum. Genet. 97, 625-631.
52. VAFIADIS, P., BENNETT, S. T., TODD, J. A., NADEAU, J., GRABS, R., GOODYER, C. G., WICKRAMASINGHE, S., COLLE, E. & POLYCHRONAKOS, C. (1997). Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nature Genet. 15, 289-292.
53. VIRTANEVA, K., D'AMATO, E., MIAO, J., KOSKINIEMI, M., NORIO, R., AVANZINI, G., FRANCESCHETTI, S., MICHELUCCI, R., TASSINARI, C. A., OMER, S., PENNACCHIO, L. A., MYERS, R. M., DIEGUEZ-LUCENA, J. L., KRAHE, R., DE LA CHAPELLE, A. & LEHESJOKI, A.-E. (1997). Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genet. 15, 393-396.
54. WARREN, S. T. (1996). The expanding world of trinucleotide repeats. Science 271, 1374-1375.
55. WARREN, S. T. & ASHLEY, C. T. JR. (1995). Triplet repeat expansion mutations: the example of fragile X syndrome. Ann. Rev. Neurosci. 18, 77-99.
56. Xu, Z. & GRUENERT, D. C. (1996). Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9. Biochem. Biophys. Res. Commun. 219, 140-145.
57. ZHUCHENKO, O., BAILEY, J., BONNEN, P., ASHIZAWA, T., STOCKTON, D. W., AMOS, C., DOBYNS, W. B., SUBRAMONY, S. H., ZOGHBI, H. Y. & LEE, C. C. (1997). Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genet. 15, 62-69.
58. ZUKER, M. (1991). Suboptimal sequence alignment in molecular biology. Alignment with error analysis. J. Mol. Biol. 221, 403-420.