메뉴 건너뛰기




Volumn 66, Issue 5, 2000, Pages 1589-1598

Persistent heteroplasmy of a mutation in the human mtDNA control region: Hypermutation as an apparent consequence of simple-repeat expansion/contraction

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PYRIMIDINE DERIVATIVE; REPETITIVE DNA;

EID: 0033911276     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302910     Document Type: Article
Times cited : (54)

References (28)
  • 3
    • 0029017083 scopus 로고
    • Length heteroplasmy in the first hypervariable segment of the human mtDNA control region
    • Bendall KE, Sykes BC (1995) Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57:248-256
    • (1995) Am J Hum Genet , vol.57 , pp. 248-256
    • Bendall, K.E.1    Sykes, B.C.2
  • 4
    • 0029807779 scopus 로고    scopus 로고
    • Heteroplasmic point mutations in the human mtDNA control region
    • Bendall KE, Macauley VA, Baker JR, Sykes BC (1996) Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet 59:1276-1287
    • (1996) Am J Hum Genet , vol.59 , pp. 1276-1287
    • Bendall, K.E.1    Macauley, V.A.2    Baker, J.R.3    Sykes, B.C.4
  • 5
    • 0032739342 scopus 로고    scopus 로고
    • Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence
    • Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkas H, Harati Y, Gibbs RA, et al (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet 8:2425-2436
    • (1999) Hum Mol Genet , vol.8 , pp. 2425-2436
    • Bidichandani, S.I.1    Purandare, S.M.2    Taylor, E.E.3    Gumin, G.4    Machkas, H.5    Harati, Y.6    Gibbs, R.A.7
  • 6
    • 85058599884 scopus 로고
    • High error rates, population equilibrium, and evolution of RNA replication systems
    • Domingo E, Holland JJ, Ahlquist P (eds) CRC Press, Boca Raton
    • Domingo E, Holland JJ (1988) High error rates, population equilibrium, and evolution of RNA replication systems. In: Domingo E, Holland JJ, Ahlquist P (eds) RNA genetics. Vol 3: Variability of RNA genomes. CRC Press, Boca Raton, pp 3-36
    • (1988) RNA Genetics. Vol 3: Variability of RNA Genomes , pp. 3-36
    • Domingo, E.1    Holland, J.J.2
  • 7
    • 15544373334 scopus 로고
    • Sequence space and quasispecies distribution
    • Domingo E, Holland JJ, Ahlquist P (eds) CRC Press, Boca Raton
    • Eigen M, Biebricher CK (1988) Sequence space and quasispecies distribution. In: Domingo E, Holland JJ, Ahlquist P (eds) RNA genetics. Vol 3: Variability of RNA genomes. CRC Press, Boca Raton, pp 211-245
    • (1988) RNA Genetics. Vol 3: Variability of RNA Genomes , pp. 211-245
    • Eigen, M.1    Biebricher, C.K.2
  • 8
    • 0032873641 scopus 로고    scopus 로고
    • Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees
    • Excoffier L, Yang Z (1999) Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol Biol Evol 16:1357-1368
    • (1999) Mol Biol Evol , vol.16 , pp. 1357-1368
    • Excoffier, L.1    Yang, Z.2
  • 9
    • 0027428406 scopus 로고
    • Toward a more accurate time scale for the human mitochondrial DNA tree
    • Hasegawa M, Di Renzo A, Kocher TD, Wilson AC (1993) Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol 37:347-354
    • (1993) J Mol Evol , vol.37 , pp. 347-354
    • Hasegawa, M.1    Di Renzo, A.2    Kocher, T.D.3    Wilson, A.C.4
  • 10
    • 0021458088 scopus 로고
    • Heterogeneous mitochondrial D-loop sequences in bovine tissue
    • Hauswirth WW, Van De Walle MJ, Laipis PJ, Olivo PD (1984) Heterogeneous mitochondrial D-loop sequences in bovine tissue. Cell 37:1001-1007
    • (1984) Cell , vol.37 , pp. 1001-1007
    • Hauswirth, W.W.1    Van De Walle, M.J.2    Laipis, P.J.3    Olivo, P.D.4
  • 11
    • 0028894410 scopus 로고
    • Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs
    • Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N (1995) Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci USA 92:532-536
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 532-536
    • Horai, S.1    Hayasaka, K.2    Kondo, R.3    Tsugane, K.4    Takahata, N.5
  • 12
    • 0031727235 scopus 로고    scopus 로고
    • Human mitochondrial diseases: Answering questions and questioning answers
    • Howell N (1999) Human mitochondrial diseases: Answering questions and questioning answers. Int Rev Cytol 186: 49-116
    • (1999) Int Rev Cytol , vol.186 , pp. 49-116
    • Howell, N.1
  • 14
    • 0028928397 scopus 로고
    • Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
    • Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 140:285-302
    • (1995) Genetics , vol.140 , pp. 285-302
    • Howell, N.1    Kubacka, I.2    Halvorson, S.3    Howell, B.4    McCullough, D.A.5    Mackey, D.6
  • 15
    • 0029759163 scopus 로고    scopus 로고
    • How rapidly does the human mitochondrial genome evolve?
    • Howell N, Kubacka I, Mackey DA (1996) How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59:501-509
    • (1996) Am J Hum Genet , vol.59 , pp. 501-509
    • Howell, N.1    Kubacka, I.2    Mackey, D.A.3
  • 16
    • 0000520696 scopus 로고    scopus 로고
    • Response to Macauley et al
    • Howell N, Mackey D (1997) Response to Macauley et al. Am J Hum Genet 61:986-990
    • (1997) Am J Hum Genet , vol.61 , pp. 986-990
    • Howell, N.1    Mackey, D.2
  • 17
    • 0028100561 scopus 로고
    • A heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation
    • Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55:203-206
    • (1994) Am J Hum Genet , vol.55 , pp. 203-206
    • Howell, N.1    Xu, M.2    Halvorson, S.3    Bodis-Wollner, I.4    Sherman, J.5
  • 18
    • 0002538268 scopus 로고
    • Sequence evolution of mitochondrial DNA in human and chimpanzees: Control region and a protein-coding region
    • Osawa S, Honjo T (eds) Springer, Tokyo
    • Kocher TD, Wilson AC (1991) Sequence evolution of mitochondrial DNA in human and chimpanzees: control region and a protein-coding region. In: Osawa S, Honjo T (eds) Evolution of life: fossils, molecules, and culture. Springer, Tokyo, pp 391-413
    • (1991) Evolution of Life: Fossils, Molecules, and Culture , pp. 391-413
    • Kocher, T.D.1    Wilson, A.C.2
  • 20
    • 0029925036 scopus 로고    scopus 로고
    • Single nucleotide positions have proximal and distal influence on UV mutation hotspots and coldspots
    • Levy DD, Magee AD, Seidman MM (1996) Single nucleotide positions have proximal and distal influence on UV mutation hotspots and coldspots. J Mol Biol 258:251-260
    • (1996) J Mol Biol , vol.258 , pp. 251-260
    • Levy, D.D.1    Magee, A.D.2    Seidman, M.M.3
  • 23
    • 0031035454 scopus 로고    scopus 로고
    • Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: Support for a genetic bottleneck
    • Marchington DR, Hartshorne GM, Barlow D, Poulton J (1997) Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 60:408-416
    • (1997) Am J Hum Genet , vol.60 , pp. 408-416
    • Marchington, D.R.1    Hartshorne, G.M.2    Barlow, D.3    Poulton, J.4
  • 24
    • 0032779612 scopus 로고    scopus 로고
    • Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA
    • Meyer S, Weiss G, van Haeseler A (1999) Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA. Genetics 152:1103-1110
    • (1999) Genetics , vol.152 , pp. 1103-1110
    • Meyer, S.1    Weiss, G.2    Van Haeseler, A.3
  • 26
    • 0024282746 scopus 로고
    • Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase
    • Tindall KR, Kunkel TA (1988) Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase. Biochemistry 27: 6008-6013
    • (1988) Biochemistry , vol.27 , pp. 6008-6013
    • Tindall, K.R.1    Kunkel, T.A.2
  • 27
    • 0028095263 scopus 로고
    • mtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to recurrent somatic duplication in the D-loop region
    • Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC (1994) mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776
    • (1994) Am J Hum Genet , vol.55 , pp. 760-776
    • Torroni, A.1    Lott, M.T.2    Cabell, M.F.3    Chen, Y.-S.4    Lavergne, L.5    Wallace, D.C.6
  • 28
    • 0027496790 scopus 로고
    • Substitution rate variation among sites in hypervariable region I of human mitochondrial DNA
    • Wakeley J (1993) Substitution rate variation among sites in hypervariable region I of human mitochondrial DNA. J Mol Evol 37:613-623
    • (1993) J Mol Evol , vol.37 , pp. 613-623
    • Wakeley, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.