메뉴 건너뛰기




Volumn 22, Issue 2, 2013, Pages 384-390

Universal heteroplasmy of human mitochondrial DNA

Author keywords

[No Author keywords available]

Indexed keywords

DNA POLYMERASE; MITOCHONDRIAL DNA;

EID: 84871565767     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds435     Document Type: Article
Times cited : (314)

References (37)
  • 1
    • 17744393686 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • Taylor, R.W. and Turnbull, D.M. (2005) Mitochondrial DNA mutations in human disease. Nat. Rev. Genet., 6, 389-402.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 389-402
    • Taylor, R.W.1    Turnbull, D.M.2
  • 3
    • 77955562856 scopus 로고    scopus 로고
    • Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes
    • Li, M., Schonberg, A., Schaefer, M., Schroeder, R., Nasidze, I. and Stoneking, M. (2010) Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes. Am. J. Hum. Genet., 87, 237-249.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 237-249
    • Li, M.1    Schonberg, A.2    Schaefer, M.3    Schroeder, R.4    Nasidze, I.5    Stoneking, M.6
  • 6
    • 67650654645 scopus 로고    scopus 로고
    • The use of mitochondrial DNA single nucleotide polymorphisms to assist in the resolution of three challenging forensic cases
    • Just, R.S., Leney, M.D., Barritt, S.M., Los, C.W., Smith, B.C., Holland, T.D. and Parsons, T.J. (2009) The use of mitochondrial DNA single nucleotide polymorphisms to assist in the resolution of three challenging forensic cases. J. Forensic Sci., 54, 887-891.
    • (2009) J. Forensic Sci. , vol.54 , pp. 887-891
    • Just, R.S.1    Leney, M.D.2    Barritt, S.M.3    Los, C.W.4    Smith, B.C.5    Holland, T.D.6    Parsons, T.J.7
  • 7
    • 77952415166 scopus 로고    scopus 로고
    • Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man
    • Wallace, D.C. (2011) Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man. Proc. Natl. Acad. Sci. USA, 107 (suppl. 2), 8947-8953.
    • (2011) Proc. Natl. Acad. Sci. USA , vol.107 , Issue.SUPPL. 2 , pp. 8947-8953
    • Wallace, D.C.1
  • 8
    • 77953507107 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in disease and aging
    • Wallace, D.C. (2010) Mitochondrial DNA mutations in disease and aging. Environ. Mol. Mutagen., 51, 440-450.
    • (2010) Environ. Mol. Mutagen. , vol.51 , pp. 440-450
    • Wallace, D.C.1
  • 9
    • 0028049837 scopus 로고
    • Relaxed and stringent genomes: why cytoplasmic genes don't obey Mendel's laws
    • Birky, C.W. (1994) Relaxed and stringent genomes: why cytoplasmic genes don't obey Mendel's laws. J. Heredity, 85, 355-365.
    • (1994) J. Heredity , vol.85 , pp. 355-365
    • Birky, C.W.1
  • 12
    • 79959450877 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in disease and aging
    • Park, C.B. and Larsson, N.G. (2011) Mitochondrial DNA mutations in disease and aging. J. Cell. Biol., 193, 809-818.
    • (2011) J. Cell. Biol. , vol.193 , pp. 809-818
    • Park, C.B.1    Larsson, N.G.2
  • 14
    • 79959467651 scopus 로고    scopus 로고
    • Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study
    • Goto, H., Dickins, B., Afgan, E., Paul, I.M., Taylor, J., Makova, K.D. and Nekrutenko, A. (2011) Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study. Genome Biol., 12, R59.
    • (2011) Genome Biol. , vol.12
    • Goto, H.1    Dickins, B.2    Afgan, E.3    Paul, I.M.4    Taylor, J.5    Makova, K.D.6    Nekrutenko, A.7
  • 15
    • 77954057208 scopus 로고    scopus 로고
    • Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system
    • Tang, S. and Huang, T. (2010) Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system. Biotechniques, 48, 287-296.
    • (2010) Biotechniques , vol.48 , pp. 287-296
    • Tang, S.1    Huang, T.2
  • 17
    • 84855926546 scopus 로고    scopus 로고
    • Next-generation sequencing of miRNAs with Roche 454 GS-FLX technology: steps for a successful application
    • Soares, A.R., Pereira, P.M. and Santos, M.A. (2011) Next-generation sequencing of miRNAs with Roche 454 GS-FLX technology: steps for a successful application. Methods Mol. Biol., 822, 189-204.
    • (2011) Methods Mol. Biol. , vol.822 , pp. 189-204
    • Soares, A.R.1    Pereira, P.M.2    Santos, M.A.3
  • 19
    • 80054692304 scopus 로고    scopus 로고
    • The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
    • Simone, D., Calabrese, F.M., Lang, M., Gasparre, G. and Attimonelli, M. (2011) The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser. BMC Genomics, 12, 517.
    • (2011) BMC Genomics , vol.12 , pp. 517
    • Simone, D.1    Calabrese, F.M.2    Lang, M.3    Gasparre, G.4    Attimonelli, M.5
  • 22
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem, G., Dermaut, B., Lofgren, A., Martin, J.-J. and Van Broeckhoven, C. (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet., 28, 211-212.
    • (2001) Nat. Genet. , vol.28 , pp. 211-212
    • Goethem, G.V.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Broeckhoven, C.V.5
  • 24
    • 2142705756 scopus 로고    scopus 로고
    • POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    • Naviaux, R.K. and Nguyen, K.V. (2004) POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol., 55, 706-712.
    • (2004) Ann. Neurol. , vol.55 , pp. 706-712
    • Naviaux, R.K.1    Nguyen, K.V.2
  • 26
    • 38849151612 scopus 로고    scopus 로고
    • Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
    • Hudson, G., Amati-Bonneau, P., Blakely, E.L., Stewart, J.D., He, L., Schaefer, A.M., Griffiths, P.G., Ahlqvist, K., Suomalainen, A., Reynier, P. et al. (2008) Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain, 131, 329-337.
    • (2008) Brain , vol.131 , pp. 329-337
    • Hudson, G.1    Amati-Bonneau, P.2    Blakely, E.L.3    Stewart, J.D.4    He, L.5    Schaefer, A.M.6    Griffiths, P.G.7    Ahlqvist, K.8    Suomalainen, A.9    Reynier, P.10
  • 31
    • 0035097502 scopus 로고    scopus 로고
    • Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age
    • Elson, J.L., Samuels, D.C., Turnbull, D.M. and Chinnery, P.F. (2001) Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am. J. Hum. Genet., 68, 802-806. 32. Greaves, L.C., Barron, M.J., Plusa, S., Kirkwood, T.B., Mathers, J.C., Taylor, R.W. and Turnbull, D.M. (2010) Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts. Exp. Gerontol., 45, 573-579.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 802-806
    • Elson, J.L.1    Samuels, D.C.2    Turnbull, D.M.3    Chinnery, P.F.4
  • 34
    • 77950426086 scopus 로고    scopus 로고
    • Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans
    • Wonnapinij, P., Chinnery, P.F. and Samuels, D.C. (2010) Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans. Am. J. Hum. Genet., 86, 540-550.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 540-550
    • Wonnapinij, P.1    Chinnery, P.F.2    Samuels, D.C.3
  • 36
    • 0033358580 scopus 로고    scopus 로고
    • Relaxed replication of mtDNA: a model with implications for the expression of disease
    • Chinnery, P.F. and Samuels, D.C. (1999) Relaxed replication of mtDNA: a model with implications for the expression of disease. Am. J. Hum. Genet., 64, 1158-1165.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1158-1165
    • Chinnery, P.F.1    Samuels, D.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.