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Volumn 86, Issue 1, 2006, Pages 98-105

Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos

Author keywords

CTG repeat instability; Human embryos; myotonic dystrophy; repeat expansion

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE;

EID: 33745484606     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.12.025     Document Type: Article
Times cited : (20)

References (41)
  • 1
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy. expansion of trinucleotide (CTG) repeat at 3′ end of a transcript encoding a protein kinase family member
    • Brook J.D., McCurrach M.E., Harley H.G., Buckler A.J., Church D., Aburantani H., et al. Molecular basis of myotonic dystrophy. expansion of trinucleotide (CTG) repeat at 3′ end of a transcript encoding a protein kinase family member. Cell 68 (1992) 799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburantani, H.6
  • 2
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton J., Shelbourne P., Davies J., Jones C., Van Tongeren T., Aslanidis C., et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 (1992) 547-548
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davies, J.3    Jones, C.4    Van Tongeren, T.5    Aslanidis, C.6
  • 3
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu Y.H., Pizzuti A., Fenwick Jr. R.G., King J., Rajnarayan S., Dunne P.W., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 (1992) 1256-1258
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick Jr., R.G.3    King, J.4    Rajnarayan, S.5    Dunne, P.W.6
  • 4
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355 (1992) 545-546
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3    Crow, S.4    Reardon, W.5    Buckler, A.J.6
  • 5
    • 0026603841 scopus 로고
    • Myotonic dystrophy. an unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M., Tsilfidis C., Sabourin L., Shutler G., Amemiya C., Jansen G., et al. Myotonic dystrophy. an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255 (1992) 1253-1255
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3    Shutler, G.4    Amemiya, C.5    Jansen, G.6
  • 6
    • 0000321630 scopus 로고    scopus 로고
    • Myotonic dystrophy
    • Rimoin D.L., Connor J.M., and Pyeritz R.E. (Eds), Churchill Livingstone, New York, NY
    • Harper P.S. Myotonic dystrophy. In: Rimoin D.L., Connor J.M., and Pyeritz R.E. (Eds). Emery and Rimoin's principles and practice of medical genetics. 3rd ed (1997), Churchill Livingstone, New York, NY 2425-2443
    • (1997) Emery and Rimoin's principles and practice of medical genetics. 3rd ed , pp. 2425-2443
    • Harper, P.S.1
  • 7
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley H.G., Rundle S.A., MacMillan J.C., Myring J., Brook J.D., Crow S., et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52 (1993) 1164-1174
    • (1993) Am J Hum Genet , vol.52 , pp. 1164-1174
    • Harley, H.G.1    Rundle, S.A.2    MacMillan, J.C.3    Myring, J.4    Brook, J.D.5    Crow, S.6
  • 8
    • 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. Anticipation in myotonic dystrophy. new light on an old problem. Am J Hum Genet 51 (1992) 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
  • 9
    • 0027366978 scopus 로고
    • Myotonic dystrophy. size and sex dependent dynamics of CTG meiotic instability and somatic mosaicism
    • Lavedan C., Hoffman-Radvanyi H., Shelbourne P., Rabes J.P., Duros C., Savoy D., et al. Myotonic dystrophy. size and sex dependent dynamics of CTG meiotic instability and somatic mosaicism. Am J Hum Genet 52 (1993) 875-883
    • (1993) Am J Hum Genet , vol.52 , pp. 875-883
    • Lavedan, C.1    Hoffman-Radvanyi, H.2    Shelbourne, P.3    Rabes, J.P.4    Duros, C.5    Savoy, D.6
  • 10
    • 0027420436 scopus 로고
    • Influence of sex of transmitting parent as well as parental allele size in the CTG expansion in myotonic dystrophy (DM)
    • Brunner H.G., Bruggenwirth H.T., Nillesen W., Jansen G., Hamel B.C., Hoppe R.L., et al. Influence of sex of transmitting parent as well as parental allele size in the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 53 (1993) 1016-1023
    • (1993) Am J Hum Genet , vol.53 , pp. 1016-1023
    • Brunner, H.G.1    Bruggenwirth, H.T.2    Nillesen, W.3    Jansen, G.4    Hamel, B.C.5    Hoppe, R.L.6
  • 12
    • 0027291764 scopus 로고
    • Myotonic dystrophy. absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
    • Hoffman-Radvanyi H., Lavedan C., Rabes J.P., Savoy D., Duros C., Johnson K., et al. Myotonic dystrophy. absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet 2 (1993) 1263-1266
    • (1993) Hum Mol Genet , vol.2 , pp. 1263-1266
    • Hoffman-Radvanyi, H.1    Lavedan, C.2    Rabes, J.P.3    Savoy, D.4    Duros, C.5    Johnson, K.6
  • 13
    • 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., et al. 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 (1994) 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
  • 15
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissue and further expansion during cell proliferation in vitro. evidence for a causal involvement of methyl directed DNA mismatch repair in triplet repeat stability
    • Wohrle D., Kennerknecht I., Wolf M., Enders H., Schwemmle S., and Steinbach P. Heterogeneity of DM kinase repeat expansion in different fetal tissue 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 (1995) 1147-1153
    • (1995) Hum Mol Genet , vol.4 , pp. 1147-1153
    • Wohrle, D.1    Kennerknecht, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6
  • 16
    • 0030915868 scopus 로고    scopus 로고
    • Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
    • Martorell L., Johnson K., Boucher C.A., and Baiget M. Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet 6 (1997) 877-880
    • (1997) Hum Mol Genet , vol.6 , pp. 877-880
    • Martorell, L.1    Johnson, K.2    Boucher, C.A.3    Baiget, M.4
  • 17
    • 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. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2 (1993) 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
  • 18
    • 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., Carey N., Johnson K., and Baiget M. Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 32 (1995) 593-596
    • (1995) J Med Genet , vol.32 , pp. 593-596
    • Martorell, L.1    Martinez, J.M.2    Carey, N.3    Johnson, K.4    Baiget, M.5
  • 20
    • 0026712370 scopus 로고
    • Phenotypic expression of the myotonic dystrophy gene in monozygotic twins
    • Dubel J.R., Armstrong R.M., Perryman M.B., Epstein H.F., and Ashizawa T. Phenotypic expression of the myotonic dystrophy gene in monozygotic twins. Neurology 42 (1992) 1815-1817
    • (1992) Neurology , vol.42 , pp. 1815-1817
    • Dubel, J.R.1    Armstrong, R.M.2    Perryman, M.B.3    Epstein, H.F.4    Ashizawa, T.5
  • 22
    • 0027418055 scopus 로고
    • Twin studies in medical research. can they tell us when diseases are genetically determined?
    • Phillips D.I. Twin studies in medical research. can they tell us when diseases are genetically determined?. Lancet 341 (1993) 1008-1009
    • (1993) Lancet , vol.341 , pp. 1008-1009
    • Phillips, D.I.1
  • 23
    • 3242722392 scopus 로고    scopus 로고
    • Intergenerational instability of the expanded CTG repeat in the DMPK gene. studies in human gametes and preimplantation embryos
    • De Temmerman N., Sermon K., Seneca S., De Rycke M., Hilven P., Lissens W., et al. Intergenerational instability of the expanded CTG repeat in the DMPK gene. studies in human gametes and preimplantation embryos. Am J Hum Genet 75 (2004) 325-329
    • (2004) Am J Hum Genet , vol.75 , pp. 325-329
    • De Temmerman, N.1    Sermon, K.2    Seneca, S.3    De Rycke, M.4    Hilven, P.5    Lissens, W.6
  • 24
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert G., Kretz C., Johnson K., and Mandel J. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 4 (1993) 72-76
    • (1993) Nat Genet , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.4
  • 25
    • 0027161022 scopus 로고
    • Mutation of human short tandem repeats
    • Weber J., and Wong C. Mutation of human short tandem repeats. Hum Mol Genet 2 (1993) 1123-1128
    • (1993) Hum Mol Genet , vol.2 , pp. 1123-1128
    • Weber, J.1    Wong, C.2
  • 27
    • 0031868126 scopus 로고    scopus 로고
    • Instability in the normal CTG repeat range at the myotonic dystrophy locus
    • Meiner A., Thamm B., Strenge S., and Froster U. Instability in the normal CTG repeat range at the myotonic dystrophy locus. J Med Genet 35 (1998) 791
    • (1998) J Med Genet , vol.35 , pp. 791
    • Meiner, A.1    Thamm, B.2    Strenge, S.3    Froster, U.4
  • 29
    • 0034848136 scopus 로고    scopus 로고
    • The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application
    • Dean N.L., Tan S.L., and Ao A. The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application. Mol Hum Reprod 7 (2001) 895-901
    • (2001) Mol Hum Reprod , vol.7 , pp. 895-901
    • Dean, N.L.1    Tan, S.L.2    Ao, A.3
  • 30
    • 0035935216 scopus 로고    scopus 로고
    • PGD in the lab for triplet repeat diseases-myotonic dystrophy, Huntington's disease and fragile-X syndrome
    • Sermon K., Seneca S., De Rycke M., Goossens V., Van de Velde H., De Vos A., et al. PGD in the lab for triplet repeat diseases-myotonic dystrophy, Huntington's disease and fragile-X syndrome. Mol Cell Endocrinol 183 Suppl 1 (2001) S77-S85
    • (2001) Mol Cell Endocrinol , vol.183 , Issue.SUPPL. 1
    • Sermon, K.1    Seneca, S.2    De Rycke, M.3    Goossens, V.4    Van de Velde, H.5    De Vos, A.6
  • 31
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner J.P., Barron L.H., Goudie D., Kelly K., Dow D., Fitzpatrick D.R., et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 33 (1996) 1022-1026
    • (1996) J Med Genet , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3    Kelly, K.4    Dow, D.5    Fitzpatrick, D.R.6
  • 32
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T., Dubel J.R., and Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43 (1993) 2674-2678
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 33
    • 0019983017 scopus 로고
    • Clinical evidence for heterogeneity in myotonic dystrophy
    • Bundey S. Clinical evidence for heterogeneity in myotonic dystrophy. J Med Genet 19 (1982) 341-348
    • (1982) J Med Genet , vol.19 , pp. 341-348
    • Bundey, S.1
  • 34
    • 33745501052 scopus 로고
    • Genetics aspects of congenital myotonic dystrophy
    • Grimm T., and Harper P.S. Genetics aspects of congenital myotonic dystrophy. Clin Genet 23 (1983) 212
    • (1983) Clin Genet , vol.23 , pp. 212
    • Grimm, T.1    Harper, P.S.2
  • 35
    • 0021173829 scopus 로고
    • Risk estimates for neonatal myotonic dystrophy
    • Glanz A., and Fraser F.C. Risk estimates for neonatal myotonic dystrophy. J Med Genet 21 (1984) 186-188
    • (1984) J Med Genet , vol.21 , pp. 186-188
    • Glanz, A.1    Fraser, F.C.2
  • 36
    • 0025794158 scopus 로고
    • Genetic risks for children of women with myotonic dystrophy
    • Koch M.C., Grimm T., Harley H.G., and Harper P.S. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48 (1991) 1084-1091
    • (1991) Am J Hum Genet , vol.48 , pp. 1084-1091
    • Koch, M.C.1    Grimm, T.2    Harley, H.G.3    Harper, P.S.4
  • 38
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman J.B., Fenwick Jr. R.G., Fu Y.H., Pizzuti A., and Caskey C.T. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 269 (1993) 1960-1965
    • (1993) JAMA , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick Jr., R.G.2    Fu, Y.H.3    Pizzuti, A.4    Caskey, C.T.5
  • 39
    • 0042759661 scopus 로고    scopus 로고
    • The contribution of cis-elements to disease-associated repeat instability. clinical and experimental evidence
    • Cleary J.D., and Pearson C.E. The contribution of cis-elements to disease-associated repeat instability. clinical and experimental evidence. Cytogenet Genome Res 100 (2003) 25-55
    • (2003) Cytogenet Genome Res , vol.100 , pp. 25-55
    • Cleary, J.D.1    Pearson, C.E.2
  • 40
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., et al. 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 (1991) 905-914
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 41
    • 0028843825 scopus 로고
    • Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome
    • Ashley A.E., and Sherman S.L. Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. Am J Hum Genet 57 (1995) 1414-1425
    • (1995) Am J Hum Genet , vol.57 , pp. 1414-1425
    • Ashley, A.E.1    Sherman, S.L.2


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