메뉴 건너뛰기




Volumn 24, Issue 2, 2004, Pages 629-637

MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENE PRODUCT; GUANINE; MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN KINASE; PROTEIN MSH2; THYMINE; UNCLASSIFIED DRUG;

EID: 0346725953     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.24.2.629-637.2004     Document Type: Article
Times cited : (93)

References (58)
  • 1
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret, M., G. Ahlberg, U. Grandell, B. Hedberg, K. Johnson, and L. Edstrom. 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
  • 6
    • 0032971232 scopus 로고    scopus 로고
    • Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands
    • Brock, G. J. R., H. A. Niall, and D. G. Monckton. 1999. Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet. 8:1061-1067.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1061-1067
    • Brock, G.J.R.1    Niall, H.A.2    Monckton, D.G.3
  • 8
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong, S. S., A. E. McCall, J. Cota, S. H. Subramony, H. T. Orr, M. R. Hughes, and H. Y. Zoghbi. 1995. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 10:344-350.
    • (1995) Nat. Genet. , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 9
    • 0036578758 scopus 로고    scopus 로고
    • Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
    • Cleary, J. D., K. Nichol, Y. H. Wang, and C. E. Pearson. 2002. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet. 31:37-46.
    • (2002) Nat. Genet. , vol.31 , pp. 37-46
    • Cleary, J.D.1    Nichol, K.2    Wang, Y.H.3    Pearson, C.E.4
  • 10
    • 0032973426 scopus 로고    scopus 로고
    • Increased instability of human CTG repeat tracts on yeast artificial chromosomes during gametogenesis
    • Cohen, H., D. D. Sears, D. Zenvirth, P. Hieter, and G. Simchen. 1999. Increased instability of human CTG repeat tracts on yeast artificial chromosomes during gametogenesis. Mol. Cell. Biol. 19:4153-4158.
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 4153-4158
    • Cohen, H.1    Sears, D.D.2    Zenvirth, D.3    Hieter, P.4    Simchen, G.5
  • 11
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: Unraveling trinucleotide repeat diseases
    • Cummings, C. J., and H. Y. Zoghbi. 2000. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 9:909-916.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 14
    • 0031739916 scopus 로고    scopus 로고
    • Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis ofsperm from patients with Friedreich's ataxia
    • De Michele, G., F. Cavalcanti, C. Criscuolo, L. Pianese, A. Monticelli, A. Filla, and S. Cocozza. 1998. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis ofsperm from patients with Friedreich's ataxia. Hum. Mol. Genet. 7:1901-1906.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1901-1906
    • De Michele, G.1    Cavalcanti, F.2    Criscuolo, C.3    Pianese, L.4    Monticelli, A.5    Filla, A.6    Cocozza, S.7
  • 15
    • 0033636242 scopus 로고    scopus 로고
    • The Saccharomyces cerevisiae Msh2 mismatch repair protein localizes to recombination intermediates in vivo
    • Evans, E., N. Sugawara, J. E. Haber, and E. Alani. 2000. The Saccharomyces cerevisiae Msh2 mismatch repair protein localizes to recombination intermediates in vivo. Mol. Cell 5:789-799.
    • (2000) Mol. Cell , vol.5 , pp. 789-799
    • Evans, E.1    Sugawara, N.2    Haber, J.E.3    Alani, E.4
  • 16
    • 0032488872 scopus 로고    scopus 로고
    • Expansion and length-dependent fragility of CTG repeats in yeast
    • Freudenreich, C. H., S. M. Kantrow, and V. A. Zakian. 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
  • 18
    • 0030763670 scopus 로고    scopus 로고
    • Intriguing association between disease associated unstable trinucleotide repeat and CpG island
    • Gourdon, G., P. Dessen, A. S. Lia, C. Junien, and H. Hoffman-Radvanyi. 1997. Intriguing association between disease associated unstable trinucleotide repeat and CpG island. Ann. Genet. 40:73-77.
    • (1997) Ann. Genet. , vol.40 , pp. 73-77
    • Gourdon, G.1    Dessen, P.2    Lia, A.S.3    Junien, C.4    Hoffman-Radvanyi, H.5
  • 19
    • 0026885037 scopus 로고
    • Anticipation in myotonic dystrophy: New light on an old problem
    • Harper, P. S., H. G. Harley, W. Reardon, and D. J. Shaw. 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
  • 20
    • 0034595842 scopus 로고    scopus 로고
    • Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion
    • Henricksen, L. A., S. Tom, Y. Liu, and R. A. Bambara. 2000. Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion. J. Biol. Chem. 275:16420-16427.
    • (2000) J. Biol. Chem. , vol.275 , pp. 16420-16427
    • Henricksen, L.A.1    Tom, S.2    Liu, Y.3    Bambara, R.A.4
  • 21
    • 0036211555 scopus 로고    scopus 로고
    • Most meiotic CAG repeat tract-length alterations in yeast are SPOll dependent
    • Jankowski, C., and D. K. Nag. 2002. Most meiotic CAG repeat tract-length alterations in yeast are SPOll dependent. Mol. Genet. Gen. 267:64-70.
    • (2002) Mol. Genet. Gen. , vol.267 , pp. 64-70
    • Jankowski, C.1    Nag, D.K.2
  • 22
    • 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., P. Willems, M. Coerwinkel, W. Nillesen, H. Smeets, L. Vits, C. Howeler, H. Brunner, and B. Wieringa. 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
  • 23
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun, I. V., and C. T. McMurray. 2001. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 27:407-411.
    • (2001) Nat. Genet. , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 26
    • 0031827446 scopus 로고    scopus 로고
    • Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is ade-dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
    • Lia, A., H. Seznec, H. Hofmann-Radvanyi, F. Radvanyi, C. Duros, C. Saquet, M. Blanche, C. Junien, and G. Gourdon. 1998. Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is ade-dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum. Mol. Genet. 7:1285-1291.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1285-1291
    • Lia, A.1    Seznec, H.2    Hofmann-Radvanyi, H.3    Radvanyi, F.4    Duros, C.5    Saquet, C.6    Blanche, M.7    Junien, C.8    Gourdon, G.9
  • 29
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini, L., K. Sathasivam, A. Mahal, R. Mott, M. Seller, and G. P. Bates. 1997. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet. 15:197-200.
    • (1997) Nat. 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
  • 30
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley, K., T. L. Shirley, L. Flaherty, and A. Messer. 1999. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23:471-473.
    • (1999) Nat. Genet. , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4
  • 31
    • 0034045198 scopus 로고    scopus 로고
    • Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
    • Martorell, L., D. G. Monckton, J. Gamez, and M. Baiget. 2000. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur. J. Hum. Genet. 8:423-430.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 423-430
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3    Baiget, M.4
  • 32
    • 0031796356 scopus 로고    scopus 로고
    • Germ cells and germ cell transplantation
    • McLaren, A. 1998. Germ cells and germ cell transplantation. Int. J. Dev. Biol. 42:855-860.
    • (1998) Int. J. Dev. Biol. , vol.42 , pp. 855-860
    • McLaren, A.1
  • 33
    • 0034820267 scopus 로고    scopus 로고
    • Mammalian germ cells: Birth, sex, and immortality
    • McLaren, A. 2001. Mammalian germ cells: birth, sex, and immortality. Cell Struct. Funct. 26:119-122.
    • (2001) Cell Struct. Funct. , vol.26 , pp. 119-122
    • McLaren, A.1
  • 34
    • 0038380294 scopus 로고    scopus 로고
    • Repair in haploid male germ cells occurs late in differentiation as chromatin is condensing
    • McMurray, C. T., and I. V. Kortun. 2003. Repair in haploid male germ cells occurs late in differentiation as chromatin is condensing. Chromosoma 111: 505-508.
    • (2003) Chromosoma , vol.111 , pp. 505-508
    • McMurray, C.T.1    Kortun, I.V.2
  • 35
    • 0032712586 scopus 로고    scopus 로고
    • Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
    • Monckton, D. G., M. L. Cayuela, F. K. Gould, G. J. Brock, R. Silva, and T. Ashizawa. 1999. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum. Mol. Genet. 8:2473-2478.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2473-2478
    • Monckton, D.G.1    Cayuela, M.L.2    Gould, F.K.3    Brock, G.J.4    Silva, R.5    Ashizawa, T.6
  • 36
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton, D. G., L. J. C. Wong, T. Ashizawa, and C. T. Caskey. 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
  • 37
    • 0020378175 scopus 로고
    • Morphometric analysis of testicular Leydig cells in normal adult mice
    • Mori, H., D. Shimizu, R. Fukunishi, and A. K. Christensen. 1982. Morphometric analysis of testicular Leydig cells in normal adult mice. Anat. Rec. 204:333-339.
    • (1982) Anat. Rec. , vol.204 , pp. 333-339
    • Mori, H.1    Shimizu, D.2    Fukunishi, R.3    Christensen, A.K.4
  • 38
    • 0030833799 scopus 로고    scopus 로고
    • Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
    • Moutou, C., M. C. Vincent, V. Biancalana, and J. L. Mandel. 1997. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum. Mol. Genet. 6:971-979.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 971-979
    • Moutou, C.1    Vincent, M.C.2    Biancalana, V.3    Mandel, J.L.4
  • 40
    • 0035451068 scopus 로고    scopus 로고
    • Genomic integrity and the repair of double-strand DNA breaks
    • Pastink, A., J. C. Eeken, and P. H. Lohman. 2001. Genomic integrity and the repair of double-strand DNA breaks. Mutat. Res. 480-481:37-50.
    • (2001) Mutat. Res. , vol.480-481 , pp. 37-50
    • Pastink, A.1    Eeken, J.C.2    Lohman, P.H.3
  • 41
    • 0032775314 scopus 로고    scopus 로고
    • Repair and consequences of double-strand breaks in DNA
    • Pastink, A., and P. H. Lohman. 1999. Repair and consequences of double-strand breaks in DNA. Mutat. Res. 428:141-156.
    • (1999) Mutat. Res. , vol.428 , pp. 141-156
    • Pastink, A.1    Lohman, P.H.2
  • 42
    • 0000486352 scopus 로고    scopus 로고
    • Slipped strand DNA, dynamic, mutations, and human disease
    • R. D. Wells and S. T. Warren (ed.). Academic Press, San Diego, Calif.
    • Pearson, C. E., and R. R. Sinden. 1998. Slipped strand DNA, dynamic, mutations, and human disease, p. 585-623. In R. D. Wells and S. T. Warren (ed.), Genetic instabilities and hereditary neurological diseases. Academic Press, San Diego, Calif.
    • (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 585-623
    • Pearson, C.E.1    Sinden, R.R.2
  • 43
    • 0037109206 scopus 로고    scopus 로고
    • Slipped-strand DNAs formed by long (CAG)*(CTG) repeats: Slipped-out repeats and slip-out junctions
    • Pearson, C. E., M. Tam, Y. H. Wang, S. E. Montgomery, A. C. Dar, J. D. Cleary, and K. Nichol. 2002. Slipped-strand DNAs formed by long (CAG)*(CTG) repeats: slipped-out repeats and slip-out junctions. Nucleic Acids Res. 30:4534-4547.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 4534-4547
    • Pearson, C.E.1    Tam, M.2    Wang, Y.H.3    Montgomery, S.E.4    Dar, A.C.5    Cleary, J.D.6    Nichol, K.7
  • 45
    • 0028903854 scopus 로고
    • Mouse testis cell sorting according to DNA and mitochondrial changes during spermatogenesis
    • Petit, J. M., M. H. Ratinaud, E. Cordelli, M. Spano, and R. Julien. 1995. Mouse testis cell sorting according to DNA and mitochondrial changes during spermatogenesis. Cytometry 19:304-312.
    • (1995) Cytometry , vol.19 , pp. 304-312
    • Petit, J.M.1    Ratinaud, M.H.2    Cordelli, E.3    Spano, M.4    Julien, R.5
  • 46
    • 0032570797 scopus 로고    scopus 로고
    • Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease
    • Petruska, J., M. J. Hartenstine, and M. F. Goodman. 1998. Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease. J. Biol. Chem. 273:5204-5210.
    • (1998) J. Biol. Chem. , vol.273 , pp. 5204-5210
    • Petruska, J.1    Hartenstine, M.J.2    Goodman, M.F.3
  • 47
    • 0036591663 scopus 로고    scopus 로고
    • Dominantly inherited, non-coding microsatellite expansion disorders
    • Ranum, L. P., and J. W. Day. 2002. Dominantly inherited, non-coding microsatellite expansion disorders. Curr. Opin. Genet. Dev. 12:266-271.
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , pp. 266-271
    • Ranum, L.P.1    Day, J.W.2
  • 48
    • 0034004137 scopus 로고    scopus 로고
    • Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice
    • Richardson, L. L., C. Pedigo, and M. Ann Handel. 2000. Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice. Biol. Reprod. 62:789-796.
    • (2000) Biol. Reprod. , vol.62 , pp. 789-796
    • Richardson, L.L.1    Pedigo, C.2    Ann Handel, M.3
  • 51
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec, H., A. Lia-Baldini, C. Duros, C. Fouquet, C. Lacroix, H. Hofmann-Radvanyi, C. Junien, and G. Gourdon. 2000. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet. 9:1185-1194.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1185-1194
    • Seznec, H.1    Lia-Baldini, A.2    Duros, C.3    Fouquet, C.4    Lacroix, C.5    Hofmann-Radvanyi, H.6    Junien, C.7    Gourdon, G.8
  • 53
    • 0033051761 scopus 로고    scopus 로고
    • Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): The instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases
    • Takiyama, Y., K. Sakoe, M. Amaike, M. Soutome, T. Ogawa, I. Nakano, and M. Nishizawa. 1999. Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. Hum. Mol. Genet. 8:453-457.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 453-457
    • Takiyama, Y.1    Sakoe, K.2    Amaike, M.3    Soutome, M.4    Ogawa, T.5    Nakano, I.6    Nishizawa, M.7
  • 55
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van den Broek, W. J., M. R. Nelen, D. G. Wansink, M. M. Coerwinkel, H. te Riele, P. J. Groenen, and B. Wieringa. 2002. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 11:191-198.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 191-198
    • Van Den Broek, W.J.1    Nelen, M.R.2    Wansink, D.G.3    Coerwinkel, M.M.4    Te Riele, H.5    Groenen, P.J.6    Wieringa, B.7
  • 57
    • 0042307369 scopus 로고    scopus 로고
    • Huntington disease expansion mutations in humans can occur before meiosis is completed
    • Yoon, S. R., L. Dubeau, M. De Young, N. S. Wexler, and N. Arnheim. 2003. Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc. Natl. Acad. Sci. USA 100:8834-8838.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 8834-8838
    • Yoon, S.R.1    Dubeau, L.2    De Young, M.3    Wexler, N.S.4    Arnheim, N.5
  • 58
    • 0036538560 scopus 로고    scopus 로고
    • Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
    • Zhang, Y., D. G. Monckton, M. J. Siciliano, T. H. Connor, and M. L. Meistrich. 2002. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum. Mol. Genet. 11:791-798.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 791-798
    • Zhang, Y.1    Monckton, D.G.2    Siciliano, M.J.3    Connor, T.H.4    Meistrich, M.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.