메뉴 건너뛰기




Volumn 35, Issue 12, 2014, Pages 1476-1484

Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain

Author keywords

Mitochondrial DNA; Oxidative phosphorylation; Somatic mutation; Synaptosome cybrid

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

EID: 84911419426     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22694     Document Type: Article
Times cited : (12)

References (45)
  • 3
    • 84874591240 scopus 로고    scopus 로고
    • The role of mitochondria in aging
    • Bratic A, Larsson NG. 2013. The role of mitochondria in aging. J Clin Invest 123:951-957.
    • (2013) J Clin Invest , vol.123 , pp. 951-957
    • Bratic, A.1    Larsson, N.G.2
  • 5
    • 0024021305 scopus 로고
    • Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton RG, Rodrigues NR, Campbell RD. 1988. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 6
    • 0023868787 scopus 로고
    • A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: homogeneity and morphology of subcellular fractions
    • Dunkley PR, Heath JW, Harrison SM, Jarvie PE, Glenfield PJ, Rostas JA. 1988. A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: homogeneity and morphology of subcellular fractions. Brain Res 441:59-71.
    • (1988) Brain Res , vol.441 , pp. 59-71
    • Dunkley, P.R.1    Heath, J.W.2    Harrison, S.M.3    Jarvie, P.E.4    Glenfield, P.J.5    Rostas, J.A.6
  • 11
    • 84870721304 scopus 로고    scopus 로고
    • Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations
    • Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TB, Turnbull DM. 2012. Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations. PLoS Genet 8:e1003082.
    • (2012) PLoS Genet , vol.8 , pp. e1003082
    • Greaves, L.C.1    Elson, J.L.2    Nooteboom, M.3    Grady, J.P.4    Taylor, G.A.5    Taylor, R.W.6    Mathers, J.C.7    Kirkwood, T.B.8    Turnbull, D.M.9
  • 12
    • 77953348161 scopus 로고    scopus 로고
    • Mitochondrial DNA repair and association with aging-an update
    • Gredilla R, Bohr VA, Stevnsner T. 2010. Mitochondrial DNA repair and association with aging-an update. Exp Gerontol 45:478-488.
    • (2010) Exp Gerontol , vol.45 , pp. 478-488
    • Gredilla, R.1    Bohr, V.A.2    Stevnsner, T.3
  • 13
    • 0032532559 scopus 로고    scopus 로고
    • Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome
    • Habano W, Nakamura S, Sugai T. 1998. Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome. Oncogene 17:1931-1937.
    • (1998) Oncogene , vol.17 , pp. 1931-1937
    • Habano, W.1    Nakamura, S.2    Sugai, T.3
  • 14
    • 84893255536 scopus 로고    scopus 로고
    • No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline
    • Hagstrom E, Freyer C, Battersby BJ, Stewart JB, Larsson NG. 2014. No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline. Nucleic Acids Res 42:1111-1116.
    • (2014) Nucleic Acids Res , vol.42 , pp. 1111-1116
    • Hagstrom, E.1    Freyer, C.2    Battersby, B.J.3    Stewart, J.B.4    Larsson, N.G.5
  • 15
    • 0030919442 scopus 로고    scopus 로고
    • Isolation of mitochondrial DNA-less mouse cell lines and their application for trapping mouse synaptosomal mitochondrial DNA with deletion mutations
    • Inoue K, Ito S, Takai D, Soejima A, Shisa H, LePecq JB, Segal-Bendirdjian E, Kagawa Y, Hayashi JI. 1997. Isolation of mitochondrial DNA-less mouse cell lines and their application for trapping mouse synaptosomal mitochondrial DNA with deletion mutations. J Biol Chem 272:15510-15515.
    • (1997) J Biol Chem , vol.272 , pp. 15510-15515
    • Inoue, K.1    Ito, S.2    Takai, D.3    Soejima, A.4    Shisa, H.5    LePecq, J.B.6    Segal-Bendirdjian, E.7    Kagawa, Y.8    Hayashi, J.I.9
  • 17
    • 0033515075 scopus 로고    scopus 로고
    • Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease
    • Ito S, Ohta S, Nishimaki K, Kagawa Y, Soma R, Kuno SY, Komatsuzaki Y, Mizusawa H, Hayashi J. 1999. Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease. Proc Natl Acad Sci USA 96:2099-2103.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2099-2103
    • Ito, S.1    Ohta, S.2    Nishimaki, K.3    Kagawa, Y.4    Soma, R.5    Kuno, S.Y.6    Komatsuzaki, Y.7    Mizusawa, H.8    Hayashi, J.9
  • 18
    • 0035500598 scopus 로고    scopus 로고
    • Making mitochondrial mutants
    • Jacobs HT. 2001. Making mitochondrial mutants. Trends Genet 17:653-660.
    • (2001) Trends Genet , vol.17 , pp. 653-660
    • Jacobs, H.T.1
  • 19
    • 0029864498 scopus 로고    scopus 로고
    • Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA
    • Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U. 1996. Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci USA 93:12382-12387.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 12382-12387
    • Jazin, E.E.1    Cavelier, L.2    Eriksson, I.3    Oreland, L.4    Gyllensten, U.5
  • 20
    • 84884686924 scopus 로고    scopus 로고
    • Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage
    • Kennedy SR, Salk JJ, Schmitt MW, Loeb LA. 2013. Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage. PLoS Genet 9:e1003794.
    • (2013) PLoS Genet , vol.9 , pp. e1003794
    • Kennedy, S.R.1    Salk, J.J.2    Schmitt, M.W.3    Loeb, L.A.4
  • 21
    • 0029877507 scopus 로고    scopus 로고
    • Use of ethidium bromide to manipulate ratio of mutated and wild-type mitochondrial DNA in cultured cells
    • King MP. 1996. Use of ethidium bromide to manipulate ratio of mutated and wild-type mitochondrial DNA in cultured cells. Methods Enzymol 264:339-344.
    • (1996) Methods Enzymol , vol.264 , pp. 339-344
    • King, M.P.1
  • 23
    • 0033560714 scopus 로고    scopus 로고
    • Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol
    • Lambrinakos A, Humphrey KE, Babon JJ, Ellis TP, Cotton RG. 1999. Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol. Nucleic Acids Res 27:1866-1874.
    • (1999) Nucleic Acids Res , vol.27 , pp. 1866-1874
    • Lambrinakos, A.1    Humphrey, K.E.2    Babon, J.J.3    Ellis, T.P.4    Cotton, R.G.5
  • 24
    • 77951225344 scopus 로고    scopus 로고
    • Generation and bioenergetic analysis of cybrids containing mitochondrial DNA from mouse skeletal muscle during aging
    • Li Y, Li HZ, Hu P, Deng J, Banoei MM, Sharma LK, Bai Y. 2010. Generation and bioenergetic analysis of cybrids containing mitochondrial DNA from mouse skeletal muscle during aging. Nucleic Acids Res 38:1913-1921.
    • (2010) Nucleic Acids Res , vol.38 , pp. 1913-1921
    • Li, Y.1    Li, H.Z.2    Hu, P.3    Deng, J.4    Banoei, M.M.5    Sharma, L.K.6    Bai, Y.7
  • 25
    • 79957971358 scopus 로고    scopus 로고
    • Mitochondrial transformation: time for concerted action
    • Lightowlers RN. 2011. Mitochondrial transformation: time for concerted action. EMBO Rep 12:480-481.
    • (2011) EMBO Rep , vol.12 , pp. 480-481
    • Lightowlers, R.N.1
  • 26
    • 84904265044 scopus 로고    scopus 로고
    • Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation
    • Lightowlers RN, Rozanska A, Chrzanowska-Lightowlers ZM. 2014. Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation. FEBS Lett 588:2496-2503.
    • (2014) FEBS Lett , vol.588 , pp. 2496-2503
    • Lightowlers, R.N.1    Rozanska, A.2    Chrzanowska-Lightowlers, Z.M.3
  • 30
    • 63449100136 scopus 로고    scopus 로고
    • Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits
    • McKenzie M, Lazarou M, Ryan MT. 2009. Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits. Methods Enzymol 456:321-339.
    • (2009) Methods Enzymol , vol.456 , pp. 321-339
    • McKenzie, M.1    Lazarou, M.2    Ryan, M.T.3
  • 31
    • 0021909244 scopus 로고
    • Nucleotide sequence preservation of human mitochondrial DNA
    • Monnat RJ Jr, Loeb LA. 1985. Nucleotide sequence preservation of human mitochondrial DNA. Proc Natl Acad Sci USA 82:2895-2899.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 2895-2899
    • Monnat Jr, R.J.1    Loeb, L.A.2
  • 32
    • 0022534679 scopus 로고
    • Nucleotide sequence identity of mitochondrial DNA from different human tissues
    • Monnat RJ Jr, Reay DT. 1986. Nucleotide sequence identity of mitochondrial DNA from different human tissues. Gene 43:205-211.
    • (1986) Gene , vol.43 , pp. 205-211
    • Monnat Jr, R.J.1    Reay, D.T.2
  • 36
    • 84869397441 scopus 로고    scopus 로고
    • Human mitochondrial DNA: roles of inherited and somatic mutations
    • Schon EA, DiMauro S, Hirano M. 2012. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet 13:878-890.
    • (2012) Nat Rev Genet , vol.13 , pp. 878-890
    • Schon, E.A.1    DiMauro, S.2    Hirano, M.3
  • 37
    • 80054692304 scopus 로고    scopus 로고
    • The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
    • Simone D, Calabrese FM, Lang M, Gasparre G, Attimonelli M. 2011. The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser. BMC Genom 12:517.
    • (2011) BMC Genom , vol.12 , pp. 517
    • Simone, D.1    Calabrese, F.M.2    Lang, M.3    Gasparre, G.4    Attimonelli, M.5
  • 39
    • 0027936218 scopus 로고
    • Cytoplasmic transfer of the mtDNA nt 8993 T->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
    • Trounce I, Neill S, Wallace DC. 1994. Cytoplasmic transfer of the mtDNA nt 8993 T->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci USA 91:8334-8338.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 8334-8338
    • Trounce, I.1    Neill, S.2    Wallace, D.C.3
  • 42
    • 77953507107 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in disease and aging
    • Wallace DC. 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
  • 43
    • 84866665390 scopus 로고    scopus 로고
    • Mitochondria and cancer
    • Wallace DC. 2012. Mitochondria and cancer. Nat Rev Cancer 12:685-698.
    • (2012) Nat Rev Cancer , vol.12 , pp. 685-698
    • Wallace, D.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.