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Volumn 7, Issue 8, 1998, Pages 1285-1291

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ANIMAL TISSUE; ARTICLE; CHROMATIN; MOSAICISM; MOUSE; MYOTONIC DYSTROPHY; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

EID: 0031827446     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1285     Document Type: Article
Times cited : (75)

References (50)
  • 6
    • 0028794822 scopus 로고
    • Normal variation at the myotonic dystrophy locus in global human populations
    • Zerylnick, C., Torroni, A., Sherman, S.L. and Warren, S.T. (1995) Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet., 56, 123-130.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 123-130
    • Zerylnick, C.1    Torroni, A.2    Sherman, S.L.3    Warren, S.T.4
  • 7
    • 0027410928 scopus 로고
    • Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy
    • Lavedan, C., Hofmann-Radvanyi, H., Rabes, J.P., Roume, J. and Junien, C. (1993) Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet, 341, 237.
    • (1993) Lancet , vol.341 , pp. 237
    • Lavedan, C.1    Hofmann-Radvanyi, H.2    Rabes, J.P.3    Roume, J.4    Junien, C.5
  • 8
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton, C.A., Johnson, K. and Moxley R.T. III (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107.
    • (1994) Ann. Neurol. , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.2    Moxley III, R.T.3
  • 9
    • 0026885037 scopus 로고
    • Anticipation in myotonic dystrophy: New light on an old problem
    • Harper, P.S., Harley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am. J. Hum. Genet., 51, 10-16.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 10-16
    • Harper, P.S.1    Harley, H.G.2    Reardon, W.3    Shaw, D.J.4
  • 12
    • 0028058252 scopus 로고
    • Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
    • Ashizawa, T., Dunne, P.W., Ward, P.A., Seltzer, W.K. and Richards, C.S. (1994) Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology, 44, 120-122.
    • (1994) Neurology , vol.44 , pp. 120-122
    • Ashizawa, T.1    Dunne, P.W.2    Ward, P.A.3    Seltzer, W.K.4    Richards, C.S.5
  • 14
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
    • Jansen, G., Willems, P., Coerwinkel, M., Nillesen, W., Smeets, H., Vits, L., Howeler, C., Brunner, H. and Wieringa, B. (1994) Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet., 54, 575-585.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 575-585
    • Jansen, G.1    Willems, P.2    Coerwinkel, M.3    Nillesen, W.4    Smeets, H.5    Vits, L.6    Howeler, C.7    Brunner, H.8    Wieringa, B.9
  • 15
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K. and Edstrom. L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2. 1397-1400.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edstrom, L.6
  • 16
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeal in myotonic dystrophy
    • Ashizawa, T., Dubel, J.R. and Harati, Y. (1993) Somatic instability of CTG repeal in myotonic dystrophy. Neurology, 43, 2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 17
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton, D.G., Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 18
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong, L.J.C., Ashizawa, T., Monckton, D.G., Caskey, C.T. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet., 56, 114-122.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 114-122
    • Wong, L.J.C.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 19
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
    • Wöhrle, D., Kennerknecht, I., Wolf, M., Enders, H., Schwemmle, S. and Steinbach, P. (1995) Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet., 4, 1147-1153.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1147-1153
    • Wöhrle, D.1    Kennerknecht, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6
  • 24
    • 0031038809 scopus 로고    scopus 로고
    • Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient
    • Gourdon, G., Radvanyi, F., Lia, A.S., Duros, C., Blanche, M., Abitbol, M., Junien, C. and Hofmann-Radvanyi, H. (1997) Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient. Nature Genet., 15, 190-192.
    • (1997) Nature Genet. , vol.15 , pp. 190-192
    • Gourdon, G.1    Radvanyi, F.2    Lia, A.S.3    Duros, C.4    Blanche, M.5    Abitbol, M.6    Junien, C.7    Hofmann-Radvanyi, H.8
  • 26
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly exp anded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly exp anded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet., 15, 197-200.
    • (1997) Nature Genet. , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5    Bates, G.P.6
  • 29
    • 0025776578 scopus 로고
    • Striking homology of the 'variable' N-terminal as well as the 'conserved core' domains of the mouse and human TATA-factors (TFIID)
    • Tamura, T., Sumita, K., Fujino, I., Aoyama, A., Horikshi, M., Hoffmann, A., Roeder, R.G., Muramatsu, M. and Mikoshiba, K. (1991) Striking homology of the 'variable' N-terminal as well as the 'conserved core' domains of the mouse and human TATA-factors (TFIID). Nucleic Acids Res., 19, 3861-3865.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 3861-3865
    • Tamura, T.1    Sumita, K.2    Fujino, I.3    Aoyama, A.4    Horikshi, M.5    Hoffmann, A.6    Roeder, R.G.7    Muramatsu, M.8    Mikoshiba, K.9
  • 30
    • 0029085338 scopus 로고
    • Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
    • Martorell, L., Martinez, J.M., Carcy, N., Johnson, K. and Baiget, M. (1995) Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J. Med. Genet., 32, 593-596.
    • (1995) J. Med. Genet. , vol.32 , pp. 593-596
    • Martorell, L.1    Martinez, J.M.2    Carcy, N.3    Johnson, K.4    Baiget, M.5
  • 31
    • 0028912550 scopus 로고
    • Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: When does the expansion occur?
    • Zatz, M., Passos Bueno, M.R., Cerqueira, A., Marie, S.K., Vainzof, M. and Pavanello, R.C.M. (1995) Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: When does the expansion occur? Hum. Mol. Genet., 4, 401-406.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 401-406
    • Zatz, M.1    Passos Bueno, M.R.2    Cerqueira, A.3    Marie, S.K.4    Vainzof, M.5    Pavanello, R.C.M.6
  • 32
    • 0030915868 scopus 로고    scopus 로고
    • Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
    • Martorell, L., Johnson, K. and Boucher, C.A. (1997) Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum. Mol. Genet., 6, 877-880.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 877-880
    • Martorell, L.1    Johnson, K.2    Boucher, C.A.3
  • 36
    • 0029988921 scopus 로고    scopus 로고
    • Somatic mosaicism of exp anded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability
    • Takano, H., Onodera, O., Takahashi, H., Igarashi, S., Yamada, M., Oyake, M., Ikeuchi, T., Koide, R., Tanaka, H., Iwabuchi, K. and Tsuji, S. (1996) Somatic mosaicism of exp anded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet., 58, 1212-1222.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1212-1222
    • Takano, H.1    Onodera, O.2    Takahashi, H.3    Igarashi, S.4    Yamada, M.5    Oyake, M.6    Ikeuchi, T.7    Koide, R.8    Tanaka, H.9    Iwabuchi, K.10    Tsuji, S.11
  • 37
    • 0028807448 scopus 로고
    • Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes
    • Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S. and Wells, R.D. (1995) 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.
    • (1995) J. Biol. Chem. , vol.270 , pp. 27014-27021
    • Kang, S.1    Ohshima, K.2    Shimizu, M.3    Amirhaeri, S.4    Wells, R.D.5
  • 38
    • 0029915847 scopus 로고    scopus 로고
    • CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event
    • Kang, S., Ohshima, K., Jaworski, A. and Wells, R.D. (1996) CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event. J. Mol. Biol., 258, 543-547.
    • (1996) J. Mol. Biol. , vol.258 , pp. 543-547
    • Kang, S.1    Ohshima, K.2    Jaworski, A.3    Wells, R.D.4
  • 40
    • 0030947319 scopus 로고    scopus 로고
    • Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae
    • Miret, J.J., Pessoa-Brandao, L. and Lahue, R.S. (1997) Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae. Mol. Cell. Biol., 17, 3382-3387.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 3382-3387
    • Miret, J.J.1    Pessoa-Brandao, L.2    Lahue, R.S.3
  • 41
    • 0031057683 scopus 로고    scopus 로고
    • Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast
    • Schweitzer, J.K. and Livingston, D.M. (1997) Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum. Mol. Genet., 6, 349-355.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 349-355
    • Schweitzer, J.K.1    Livingston, D.M.2
  • 42
    • 0030895078 scopus 로고    scopus 로고
    • Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
    • Freudenreich, C.H., Stavenhagen, J.B. and Zakian, V.A. (1997) Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol., 17, 2090-2098.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2090-2098
    • Freudenreich, C.H.1    Stavenhagen, J.B.2    Zakian, V.A.3
  • 43
    • 0032488872 scopus 로고    scopus 로고
    • Expansion and length-dependent fragility of CTG repeats in yeast
    • Freudenreich, C.H., Kantrow, S.M. and Zakian, V.A. (1998) Expansion and length-dependent fragility of CTG repeats in yeast. Science, 279, 853-856.
    • (1998) Science , vol.279 , pp. 853-856
    • Freudenreich, C.H.1    Kantrow, S.M.2    Zakian, V.A.3
  • 44
    • 0031965224 scopus 로고    scopus 로고
    • Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation
    • Schweitzer, J.K. and Livingston, D.M. (1998) Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation. Hum. Mol. Genet., 7, 69-74.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 69-74
    • Schweitzer, J.K.1    Livingston, D.M.2
  • 45
    • 70449550192 scopus 로고
    • Cell proliferation and migration as revealed by radioautography after injection of thymidine-H3 into male rats and mice
    • Messier, B. and Leblond, C.P. (1960) Cell proliferation and migration as revealed by radioautography after injection of thymidine-H3 into male rats and mice. Am. J. Anat., 106, 247-265.
    • (1960) Am. J. Anat. , vol.106 , pp. 247-265
    • Messier, B.1    Leblond, C.P.2
  • 47
    • 0029053371 scopus 로고
    • Trinucleotide repeats that expand in human disease form hairpin structures in vitro
    • Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T.(1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
    • (1995) Cell , vol.81 , pp. 533-540
    • Gacy, A.M.1    Goellner, G.2    Juranic, N.3    Macura, S.4    McMurray, C.T.5
  • 48
    • 0030752987 scopus 로고    scopus 로고
    • Human MSH2 hinds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
    • Pearson, C.E., Ewel, A., Acharya, S., Fishel, R.A. and Sinden, R.R. (1997) Human MSH2 hinds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Mol. Genet., 7, 1117-1123.
    • (1997) Hum. Mol. Genet. , vol.7 , pp. 1117-1123
    • Pearson, C.E.1    Ewel, A.2    Acharya, S.3    Fishel, R.A.4    Sinden, R.R.5
  • 49
    • 0030789980 scopus 로고    scopus 로고
    • Transcription increases the deletion frequency of long CTGCAG triplet repeats from plasmids in Escherichia coli
    • Bowater, R.P., Jaworski, A., Larson, J.E., Parniewski, P. and Wells, R.D. (1997) Transcription increases the deletion frequency of long CTGCAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res., 25, 2861-2868.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 2861-2868
    • Bowater, R.P.1    Jaworski, A.2    Larson, J.E.3    Parniewski, P.4    Wells, R.D.5
  • 50
    • 0025141652 scopus 로고
    • Repeat unit sequence variation in minisatellites: A novel source of polymorphism for studying allelic variation and mutation by single molecule analysis
    • Jeffreys, A., Neumann, R. and Wilson, V. (1990) Repeat unit sequence variation in minisatellites: a novel source of polymorphism for studying allelic variation and mutation by single molecule analysis. Cell, 60, 473-485.
    • (1990) Cell , vol.60 , pp. 473-485
    • Jeffreys, A.1    Neumann, R.2    Wilson, V.3


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