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Volumn 8, Issue 2, 1999, Pages 173-183

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; MALE; MITOSIS; MUTATION RATE; PRIORITY JOURNAL; SPERM; STATISTICAL MODEL; TRINUCLEOTIDE REPEAT;

EID: 0032897901     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.173     Document Type: Article
Times cited : (98)

References (76)
  • 2
    • 0029873571 scopus 로고    scopus 로고
    • Trinucleotide instability: A repeating theme in human inherited disorders
    • Gusella, J.F. and MacDonald, M.E. (1996) Trinucleotide instability: a repeating theme in human inherited disorders. Annu. Rev. Med., 47, 201-209.
    • (1996) Annu. Rev. Med. , vol.47 , pp. 201-209
    • Gusella, J.F.1    MacDonald, M.E.2
  • 3
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley, C.T. and Warren, S.T. (1995) Trinucleotide repeat expansion and human disease. Annu. Rev. Genet., 29, 703-728.
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 4
    • 0028997643 scopus 로고
    • Simple tandem DNA repeats and human genetic disease
    • Sutherland, G.R. and Richards, R.I. (1995) Simple tandem DNA repeats and human genetic disease. Proc. Natl Acad. Sci. USA, 92, 3636-3641.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 3636-3641
    • Sutherland, G.R.1    Richards, R.I.2
  • 5
    • 2442761245 scopus 로고    scopus 로고
    • Intergenerational instability of the CAG repeat of the gene for Machado-Joseph Disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
    • Igarashi, S., Takiyama, Y., Cancel, G., Rogaeva, E.A., Sasaki, H., Wakisaka, A., Zhou, Y.X., Takano, H., Endo, K. et al. (1996) Intergenerational instability of the CAG repeat of the gene for Machado-Joseph Disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet., 5, 923-932.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 923-932
    • Igarashi, S.1    Takiyama, Y.2    Cancel, G.3    Rogaeva, E.A.4    Sasaki, H.5    Wakisaka, A.6    Zhou, Y.X.7    Takano, H.8    Endo, K.9
  • 9
    • 0028938274 scopus 로고
    • Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease
    • Norremolle, A., Sorensen, S.A., Fenger, K. and Hasholt, L. (1995) Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease. Clin. Genet., 47, 113-117.
    • (1995) Clin. Genet. , vol.47 , pp. 113-117
    • Norremolle, A.1    Sorensen, S.A.2    Fenger, K.3    Hasholt, L.4
  • 12
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer, B., Almqvist, E., Theilmann, J., Spence, N., Telenius, H., Goldberg, Y.P. and Hayden, M.R. (1995) Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am. J. Hum. Genet., 57, 343-350.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3    Spence, N.4    Telenius, H.5    Goldberg, Y.P.6    Hayden, M.R.7
  • 16
    • 0028234720 scopus 로고
    • Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset
    • Trottier, Y., Biancalana, V. and Mandel, J.L. (1994) Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J. Med. Genet., 31, 377-382.
    • (1994) J. Med. Genet. , vol.31 , pp. 377-382
    • Trottier, Y.1    Biancalana, V.2    Mandel, J.L.3
  • 18
    • 0026086831 scopus 로고
    • Molecular approaches to hereditary diseases of the nervous system: Huntington's disease as a paradigm
    • Wexler, N.S., Rose, E.A. and Housman, D.E. (1991) Molecular approaches to hereditary diseases of the nervous system: Huntington's disease as a paradigm. Annu. Rev. Neurol., 14, 503-529.
    • (1991) Annu. Rev. Neurol. , vol.14 , pp. 503-529
    • Wexler, N.S.1    Rose, E.A.2    Housman, D.E.3
  • 19
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
    • Leeflang, E.P., Zhang, L., Tavare, S., Hubert, R., Srinidhi, J., Macdonald, M.E., Myers, R.H., Deyoung, M., Wexler, N.S. et al. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet., 4, 1519-1526.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavare, S.3    Hubert, R.4    Srinidhi, J.5    Macdonald, M.E.6    Myers, R.H.7    Deyoung, M.8    Wexler, N.S.9
  • 21
    • 0028177342 scopus 로고
    • A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene, implications for diagnostic accuracy and predictive testing
    • Andrew, S.E., Goldberg, Y.P., Theilmann, J., Zeisler, J. and Hayden, M.R. (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene, implications for diagnostic accuracy and predictive testing. Hum. Mol. Genet., 3, 65-67.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisler, J.4    Hayden, M.R.5
  • 24
    • 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
  • 25
    • 0023649836 scopus 로고
    • High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12
    • Levinson, G. and Gutman, G.A. (1987) High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12. Nucleic Acids Res., 15, 5323-5338.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 5323-5338
    • Levinson, G.1    Gutman, G.A.2
  • 26
    • 0026769505 scopus 로고
    • Instability of simple sequence DNA in Saccharomyces cerevisiae
    • Henderson, S.T. and Petes, T.D. (1992) Instability of simple sequence DNA in Saccharomyces cerevisiae. Mol. Cell. Biol., 12, 2749-2757.
    • (1992) Mol. Cell. Biol , vol.12 , pp. 2749-2757
    • Henderson, S.T.1    Petes, T.D.2
  • 28
    • 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
  • 29
    • 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
  • 30
    • 0028576410 scopus 로고
    • Mismatch repair and cancer susceptibility
    • Kolodner, R.D. and Alani, E. (1994) Mismatch repair and cancer susceptibility. Curr. Opin. Biotechnol., 5, 585-594.
    • (1994) Curr. Opin. Biotechnol. , vol.5 , pp. 585-594
    • Kolodner, R.D.1    Alani, E.2
  • 31
    • 0029943449 scopus 로고    scopus 로고
    • Mismatch repair in replication fidelity, genetic recombination and cancer biology
    • Modrich, P. and Lahue, R. (1996) Mismatch repair in replication fidelity, genetic recombination and cancer biology. Annu. Rev. Biochem., 65, 101-133.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 101-133
    • Modrich, P.1    Lahue, R.2
  • 33
    • 0027285475 scopus 로고
    • Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
    • Ionov, Y., Peinado, M.A., Malkhosyan, S., Shibata, D. and Perucho, M. (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature, 363, 558-561.
    • (1993) Nature , vol.363 , pp. 558-561
    • Ionov, Y.1    Peinado, M.A.2    Malkhosyan, S.3    Shibata, D.4    Perucho, M.5
  • 35
    • 0031442653 scopus 로고    scopus 로고
    • A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair
    • Tishkoff, D.X., Filosi, N., Gaida, G.M. and Kolodner, R.D. (1997) A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair [see comments]. Cell, 88, 253-263.
    • (1997) Cell , vol.88 , pp. 253-263
    • Tishkoff, D.X.1    Filosi, N.2    Gaida, G.M.3    Kolodner, R.D.4
  • 36
    • 0031953438 scopus 로고    scopus 로고
    • Destabilization of yeast micro- and minisatellite DNA sequences by mutations affecting a nuclease involved in Okazaki fragment processing (rad27) and DNA polymerase delta (pol3-t)
    • Kokoska, R.J., Stefanovic, L., Tran, H.T., Resnick, M.A., Gordenin, D.A. and Petes, T.D. (1998) Destabilization of yeast micro- and minisatellite DNA sequences by mutations affecting a nuclease involved in Okazaki fragment processing (rad27) and DNA polymerase delta (pol3-t). Mol. Cell. Biol., 18, 2779-2788.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 2779-2788
    • Kokoska, R.J.1    Stefanovic, L.2    Tran, H.T.3    Resnick, M.A.4    Gordenin, D.A.5    Petes, T.D.6
  • 37
    • 0031846463 scopus 로고    scopus 로고
    • Role of yeast Rth1 nuclease and its homologs in mutation avoidance, DNA repair and DNA replication
    • Johnson, R.E., Kovvali, G.K., Prakash, L. and Prakash, S. (1998) Role of yeast Rth1 nuclease and its homologs in mutation avoidance, DNA repair and DNA replication. Curr. Genet., 34, 21-29.
    • (1998) Curr. Genet. , vol.34 , pp. 21-29
    • Johnson, R.E.1    Kovvali, G.K.2    Prakash, L.3    Prakash, S.4
  • 38
    • 0029616338 scopus 로고
    • Calf 5′ to 3′ exo/endonuclease must slide from a 5′ end of the substrate to perform structure-specific cleavage
    • Murante, R.S., Rust, L. and Bambara, R.A. (1995) Calf 5′ to 3′ exo/endonuclease must slide from a 5′ end of the substrate to perform structure-specific cleavage. J. Biol. Chem., 270, 30377-30383.
    • (1995) J. Biol. Chem. , vol.270 , pp. 30377-30383
    • Murante, R.S.1    Rust, L.2    Bambara, R.A.3
  • 39
    • 0031104841 scopus 로고    scopus 로고
    • The FEN-1 family of structure-specific nucleases in eukaryotic DNA replication, recombination and repair
    • Lieber, M.R. (1997) The FEN-1 family of structure-specific nucleases in eukaryotic DNA replication, recombination and repair. Bioessays, 19, 233-240.
    • (1997) Bioessays , vol.19 , pp. 233-240
    • Lieber, M.R.1
  • 40
    • 0027229993 scopus 로고
    • VNTR allele frequency distributions under the stepwise mutation model: A computer simulation approach
    • Shriver, M.D., Jin, L., Chakraborty, R. and Boerwinkle, E. (1993) VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics, 134, 983-993.
    • (1993) Genetics , vol.134 , pp. 983-993
    • Shriver, M.D.1    Jin, L.2    Chakraborty, R.3    Boerwinkle, E.4
  • 41
    • 0027474097 scopus 로고
    • Allele frequencies at microsatellite loci: The stepwise mutation model revisited
    • Valdes, A.M., Slatkin, M. and Freimer, N.B. (1993) Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics, 133, 737-749.
    • (1993) Genetics , vol.133 , pp. 737-749
    • Valdes, A.M.1    Slatkin, M.2    Freimer, N.B.3
  • 42
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards, R.I. and Sutherland, G.R. (1994) Simple repeat DNA is not replicated simply. Nature Genet., 6, 114-116.
    • (1994) Nature Genet. , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 44
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile-X repeat could result in predisposing normal alleles
    • Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation of the fragile-X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 45
    • 0026419949 scopus 로고
    • Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli
    • Trinh, T.Q. and Sinden, R.R. (1991) Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli. Nature, 352, 544-547.
    • (1991) Nature , vol.352 , pp. 544-547
    • Trinh, T.Q.1    Sinden, R.R.2
  • 46
    • 0027218812 scopus 로고
    • Greater susceptibility to mutations in lagging strand of DNA replication in Escherichia coli than in leading strand
    • Veaute, X. and Fuchs, R.P. (1993) Greater susceptibility to mutations in lagging strand of DNA replication in Escherichia coli than in leading strand. Science, 261, 598-600.
    • (1993) Science , vol.261 , pp. 598-600
    • Veaute, X.1    Fuchs, R.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
  • 49
    • 0029965463 scopus 로고    scopus 로고
    • Structure and dynamics of the DNA hairpins formed by tandemly repeated CTG triplets associated with myotonic dystrophy
    • Mariappan, S.V.S., Garcia, A.E. and Gupta, G. (1996) Structure and dynamics of the DNA hairpins formed by tandemly repeated CTG triplets associated with myotonic dystrophy. Nucleic Acids Res., 24, 775-783.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 775-783
    • Mariappan, S.V.S.1    Garcia, A.E.2    Gupta, G.3
  • 50
    • 0029074181 scopus 로고
    • n oligonucleotides in solution and their possible relevance to fragile-X and related human genetic diseases
    • n oligonucleotides in solution and their possible relevance to fragile-X and related human genetic diseases. Nucleic Acids Res., 23, 1876-1881.
    • (1995) Nucleic Acids Res. , vol.23 , pp. 1876-1881
    • Mitchell, J.E.1    Newbury, S.F.2    McClellan, J.A.3
  • 51
    • 0029883306 scopus 로고    scopus 로고
    • Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases
    • Petruska, J., Arnheim, N. and Goodman, M.F. (1996) Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases. Nucleic Acids Res., 24, 1992-1998.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 1992-1998
    • Petruska, J.1    Arnheim, N.2    Goodman, M.F.3
  • 52
    • 0029883805 scopus 로고    scopus 로고
    • Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile-X loci
    • Pearson, C.E. and Sinden, R.R. (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile-X loci. Biochemistry, 35, 5041-5053.
    • (1996) Biochemistry , vol.35 , pp. 5041-5053
    • Pearson, C.E.1    Sinden, R.R.2
  • 53
    • 0028864764 scopus 로고
    • DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes
    • Smith, G.K., Jie, J., Fox, G.E. and Gao, X.L. (1995) DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes. Nucleic Acids Res., 23, 4303-4311.
    • (1995) Nucleic Acids Res. , vol.23 , pp. 4303-4311
    • Smith, G.K.1    Jie, J.2    Fox, G.E.3    Gao, X.L.4
  • 54
    • 0028820372 scopus 로고
    • The effects of trinucleotide repeats found in human inherited disorders on palindrome inviability in Escherichia coli suggest hairpin folding preferences in vivo
    • Darlow, J.M. and Leach, D.R. (1995) The effects of trinucleotide repeats found in human inherited disorders on palindrome inviability in Escherichia coli suggest hairpin folding preferences in vivo. Genetics, 141, 825-832.
    • (1995) Genetics , vol.141 , pp. 825-832
    • Darlow, J.M.1    Leach, D.R.2
  • 56
    • 0025073066 scopus 로고
    • Identification of an origin of bidirectional DNA replication in mammalian chromosomes
    • Burhans, W.C., Vassilev, L.T., Caddle, M.S., Heintz, N.H. and DePamphilis, M.L. (1990) Identification of an origin of bidirectional DNA replication in mammalian chromosomes. Cell, 62, 955-965.
    • (1990) Cell , vol.62 , pp. 955-965
    • Burhans, W.C.1    Vassilev, L.T.2    Caddle, M.S.3    Heintz, N.H.4    DePamphilis, M.L.5
  • 57
    • 0029078029 scopus 로고
    • Biological basis of germline mutation: Comparisons of spontaneous germline mutation rates among Drosophila, mouse and human
    • Drost, J.B. and Lee, W.R. (1995) Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among Drosophila, mouse and human. Environ. Mol. Mutagen., 25, 48-64.
    • (1995) Environ. Mol. Mutagen. , vol.25 , pp. 48-64
    • Drost, J.B.1    Lee, W.R.2
  • 58
    • 0031558479 scopus 로고    scopus 로고
    • Computer simulation of expansions of DNA triplet repeats in the fragile X syndrome and Huntington's disease
    • Bat, O., Kimmel, M. and Axelrod, D.E. (1997) Computer simulation of expansions of DNA triplet repeats in the fragile X syndrome and Huntington's disease. J. Theor. Biol., 188, 53-67.
    • (1997) J. Theor. Biol. , vol.188 , pp. 53-67
    • Bat, O.1    Kimmel, M.2    Axelrod, D.E.3
  • 59
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
    • Devys, D., Biancalana, V., Rousseau, F., Boue, J., Mandel, J.L. and Oberle, I. (1992) Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am. J. Med. Genet., 43, 208-216.
    • (1992) Am. J. Med. Genet. , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boue, J.4    Mandel, J.L.5    Oberle, I.6
  • 60
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
    • Wohrle, D., Hennig, I., Vogel, W. and Steinbach, P. (1993) Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion [see comments]. Nature Genet., 4, 140-142.
    • (1993) Nature Genet. , vol.4 , pp. 140-142
    • Wohrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 62
    • 0031981941 scopus 로고    scopus 로고
    • Biased short tract repair of palindromic loop mismatches in mammalian cells
    • Taghian, D.G., Hough, H. and Nickoloff, J.A. (1998) Biased short tract repair of palindromic loop mismatches in mammalian cells. Genetics, 148, 1257-1268.
    • (1998) Genetics , vol.148 , pp. 1257-1268
    • Taghian, D.G.1    Hough, H.2    Nickoloff, J.A.3
  • 65
    • 0030895078 scopus 로고    scopus 로고
    • Stability of a 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 a 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
  • 66
    • 0029958255 scopus 로고    scopus 로고
    • Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae
    • Maurer, D.J., Ocallaghan, B.L. and Livingston, D.M. (1996) Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol. Cell. Biol., 16, 6617-6622.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 6617-6622
    • Maurer, D.J.1    Ocallaghan, B.L.2    Livingston, D.M.3
  • 67
    • 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
  • 69
    • 0344659943 scopus 로고    scopus 로고
    • Microsatellite instability in yeast: Dependence on the length of the microsatellite
    • in press
    • Wierdl, M., Dominska, M. and Petes, T.D. (1998) Microsatellite instability in yeast: dependence on the length of the microsatellite. Genetics, in press.
    • (1998) Genetics
    • Wierdl, M.1    Dominska, M.2    Petes, T.D.3
  • 70
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong, L.J., 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.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 71
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analysis
    • Monckton, D.G., Wong, L.-J.C.A.T and Casky, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analysis. Hum. Mol. Genet., 4, 1-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.-J.C.A.T.2    Casky, C.T.3
  • 73
    • 0032519766 scopus 로고    scopus 로고
    • Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans
    • Shen, M.R., Jones, I.M. and Mohrenweiser, H. (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res., 58, 604-608.
    • (1998) Cancer Res. , vol.58 , pp. 604-608
    • Shen, M.R.1    Jones, I.M.2    Mohrenweiser, H.3
  • 74
    • 0027982427 scopus 로고
    • Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
    • Zhang, L., Leeflang, E.P., Yu, J. and Arnheim, N. (1994) Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nature Genet., 7, 531-535.
    • (1994) Nature Genet. , vol.7 , pp. 531-535
    • Zhang, L.1    Leeflang, E.P.2    Yu, J.3    Arnheim, N.4
  • 75
    • 0028925739 scopus 로고
    • CAG repeat length variation in sperm from a patient with Kennedy's disease
    • Zhang, L., Fischbeck, K.H. and Arnheim, N. (1995) CAG repeat length variation in sperm from a patient with Kennedy's disease. Hum. Mol. Genet., 4, 303-305.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 303-305
    • Zhang, L.1    Fischbeck, K.H.2    Arnheim, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.