Increased trinucleotide repeat instability with advanced maternal age

Human Molecular Genetics

Volumn 6, Issue 12, 1997, Pages 2135-2139

  Kaytor, Michael D ^a,b   Burright, Eric N ^a,b   Duvick, Lisa A ^b   Zoghbi, Huda Y ^c   Orr, Harry T ^a,b  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; DNA REPLICATION; FEMALE; FERTILIZATION; GENETIC STABILITY; MATERNAL AGE; MEIOSIS; MOUSE; NONHUMAN; OOCYTE; PRIORITY JOURNAL; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ADENINE; ANIMALS; BREEDING; CYTOSINE; FEMALE; GUANINE; MALE; MATERNAL AGE; MICE; MICE, INBRED STRAINS; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OOGENESIS; TRINUCLEOTIDE REPEATS;

ANIMALIA; MAMMALIA; MUS MUSCULUS;

EID: 0030700381     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.12.2135     Document Type: Article

References (33)

1. Zoghbi,H.Y. and Orr,H.T. (1995) Spinocerebellar ataxia type 1. Semin. Cell Biol., 6, 29-35.
2. Sanpei,K., Takano,H., Lgarashi,S., Sato,T., Oyake,M., Sasaki,H., Wakisaka,A., Tashiro,T., Ishida,Y., Ikeuchi,T., Koide,R., Saito,M., Saito,A., Tanaka,T., Hanyu,S., Takiyama,Y., Nishizawa,M., Shimizu,N., Nomura,Y., Segawa,M., Iwabuchi,K., Eguchi,I., Tanaka,H., Takahashi,H., and Tsuji,S. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet., 14, 277-284.
3. Pulst,S.-M., Nechiporuk,A., Nechiporuk,T., Gispert,S., Chen,X.-N., Lopes-Cendes,I., Pearlman,S., Starkman,S., Orozco-Diaz,G., Lunkes,A., DeJong,P., Rouleau,G.A., Auburger,G., Korenberg, J.R., Figueroa,C. and Sahba,S. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerehellar ataxia type 2. Nature Genet., 14, 269-276.
4. Imbert,G., Sauclou,F., Yvert,G., Devys,D., Trottier,Y., Gamier,J.-M., Weber,C., Mandel,J.-L.G., Cancel,G., Abbas,N., Durr,A., Didierjean,O., Stevanin,G., Agid,Y. and Brice,A.G. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet., 14, 285-291.
5. Kawaguchi,Y., Okamoto,T., Yaniwaki,M., Aizawa,M., Inoue,M., Katayama,S., Kawakami,H., Nakamura,S., Nishimura,M., Akiguchi,I., Kimura,J., Narumiya,S. and Kakizuka,A. (1994) CAG expansion in a novel gene from Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8, 221-227.
6. Zhuchenko,O., Bailey,J., Bonnen,P., Ashizawa,T., Stockton,D.W., Amos,C., Dobyns,W.B., Subramony,S.H., Zoghbi,H.Y. and Lee,C.C. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α-1 A-voltaae-dependent calcium channel. Nature Genet., 15, 62-69.
7. The Huntington 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. La Spada,A.R., Wilson,E.M., Luhahn,D.B., Harding,A.E. and Fischbeck,K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
9. Koide,R., Ikeuchi,T., Onodera,O., Tanaka,H., Igarashi,S., Endo,K., Takahasi,H., Kondo,R., Ishikawa,A., Hayashi,T, Saito,M., Tomoda,A., Miike,T., Naito,H., Ikuta,F. and Tsuji,S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
10. Nagafuchi,S., Yanagisawa,H., Sato,K., Shirayama,T., Ohaski,E., Bundo,M., Takedo,T., Tadokoro,K., Kondo, I., Muruyama,N., Tanaka,Y., Kikushima,H., Umino,K., Kurosawa,H., Furukawa,T., Nihei,K., Inoue,T., Sano,A., Komure,O., Takahashi,M., Yoshizawa,T., Kanazawa,I. and Yamada,M. (1994) Dentatorubral and pallidoluysian atrophy: expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet., 6, 14-18.
11. Burke,J.R., Wingfield,M.S., Lewis,K.E., Roses,A.D., Lee,J.E., Hulette,C., Pericak-Vance,M.A. and Vance,J.M. (1994) The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet., 7, 521-524.
12. 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. and Zoghbi.H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
13. Ranum,L.P.W., 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., Orr,H.T. and Zoghbi,H.Y. (1994) Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am. J. Hum. Genet., 55, 244-252.
14. Monckton,D.G., Coolbaugh,M.I., Ashizawa,K.T, Siciliano,M.J. and Caskey,C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet., 15, 193-196.
15. Gourdon,G., Radvanyi,F., Lia,A.-S., Duros,C., Blanche,M., Abitbol,M., Junien,C., and Hofmann-Radvanyi.H. (1997) Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genet., 15, 190-192.
16. Mangiarini,L., Sathasivam,K., Mahal,A., Mott,R., Seller,M. and Bates,G.P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet., 15, 197-200.
17. Chung,M.Y., Ranum,L.P.W., Duvick,L.A., Servadio,A., Zoghbi,H.Y. and Orr,H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet., 5, 254-258.
18. Jodice,C., Malasppina.P, Persichetti,F., Noveletto,A., Spadaro,M., Guinli,P., Morocutti,C., Terrenato,L., Harding,A.E. and Frontali,M. (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum. Genet., 54, 959-965.
19. Burright,E.N., Clark,H.B., Servadio,A., Matilla,T., Feddersen,R.M., Yunis,W.S., Duvick,L.A., Zoghbi,H.Y. and Orr,H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82, 937-948.
20. Hogan,B., Beddington,R., Costantini,F. and Lacy,E. (1994) Manipulating the Mouse Embryo: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
21. Kunkel,T.A. (1993) Slippery DNA and diseases. Nature, 365, 207-208.
22. Richards,R.I. and Sutherland,G.R. (1994) Simple repeat DNA is not replicated simply. Nature Genet., 6, 114-116.
23. McMurray,C.T. (1995) Mechanisms of DNA expansion. Chromosoma, 104, 2-13.
24. von Wettstein,D., Rasmussen,S.W. and Holm,P.B. (1984) The synaptonemal complex in genetic segregation. Annu. Rev. Genet., 18, 331-413.
25. Carpenter,A.T.C. (1987) Gene conversion, recombination nodules, and the initiation of meiotic synapsis. BioEssays, 6, 232-236.
26. Ozenberger,B.A. and Roeder,G.S. (1991) A unique pathway of double-strand break repair operates in tandomly repeated genes. Mol. Cell. Biol., 11, 1222-1231.
27. Segal,D.J. and Carroll,D. (1995) Endonuclease-induced, targeted homologous extrachromosomal recombination in Xenopus oocytes. Proc. Natl. Acad. Sci. USA, 92, 806-810.
28. Nicolas,A.L., Munz,P.L. and Young,C.S. (1995) A modified single-strand annealing model best explains the joining of DNA double-strand breaks mammalian cells and cell extracts. Nucleic Acids Res., 23, 1036-1043.
29. Kaneko,T, Tahara,S. and Matsuo,M. (1996) Non-linear accumulation of 8-hydroxy-2′-deoxyguanosine, a marker of oxidized DNA damage, during aging. Mutat. Res., 316, 277-285.
30. 3d. Vandaele,S., Nordquist,D.T., Feddersen,R.M., Tretjakoff,I., Peterson,A.C. and Orr,H.T. (1991) Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments. Genes Der., 5, 1136-1148.
31. Gorman,C. Padmanabhan,R. and Howard,B.H. (1983) High efficiency DNA-mediated transformation of primate cells. Science, 221, 551-553.
32. Hanley,T. and Merlie,J.P. (1991) Transgene detection in unpurified mouse tail DNA by polymerase chain reaction. Bio Techniques, 10, 56.
33. Leeflang,E.P., Zhang,L., Tavare,S., Hubert,R., Srinidhi,J., MacDonald,M.E., Myers,R.H., de Young,M., Wexler,N.S., Gusella,J.F and Arnheim,N. (1995) Single sperm analysis of the trinucleotide repeals in the Huntinglon's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet., 4, 1519-1526.