메뉴 건너뛰기




Volumn 55, Issue 11, 2007, Pages 1159-1166

Single-cell A3243G mitochondrial DNA mutation load assays for segregation analysis

Author keywords

A3243G mtDNA; Aging; Heteroplasmy; Mitochondrial diseases; Mutation load; Padlock probing; PCR RFLP; Segregation

Indexed keywords

MITOCHONDRIAL DNA;

EID: 35548956780     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1369/jhc.7A7282.2007     Document Type: Article
Times cited : (10)

References (12)
  • 2
    • 2642539211 scopus 로고    scopus 로고
    • Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach
    • Bai RK, Wong LJ (2004) Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem 50:996-1001
    • (2004) Clin Chem , vol.50 , pp. 996-1001
    • Bai, R.K.1    Wong, L.J.2
  • 3
    • 33847248347 scopus 로고    scopus 로고
    • The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells
    • Cao L, Shitara H, Horii T, Nagao Y, Imai H, Abe K, Hara T, et al. (2007) The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat Genet 39: 386-390
    • (2007) Nat Genet , vol.39 , pp. 386-390
    • Cao, L.1    Shitara, H.2    Horii, T.3    Nagao, Y.4    Imai, H.5    Abe, K.6    Hara, T.7
  • 4
    • 0036534196 scopus 로고    scopus 로고
    • Modulating heteroplasmy
    • Chinnery PF (2002) Modulating heteroplasmy. Trends Genet 18: 173-176
    • (2002) Trends Genet , vol.18 , pp. 173-176
    • Chinnery, P.F.1
  • 6
    • 35548971287 scopus 로고    scopus 로고
    • Segregation and dynamics of mitochondrial DNA in mammalian cells
    • Holt IJ, ed, Oxford, Oxford University Press
    • Enriquez JA (2003) Segregation and dynamics of mitochondrial DNA in mammalian cells. In Holt IJ, ed. Genetics of Mitochondrial Diseases. Oxford, Oxford University Press, 279-294
    • (2003) Genetics of Mitochondrial Diseases , pp. 279-294
    • Enriquez, J.A.1
  • 7
    • 0029816795 scopus 로고    scopus 로고
    • Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
    • Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14:146-151
    • (1996) Nat Genet , vol.14 , pp. 146-151
    • Jenuth, J.P.1    Peterson, A.C.2    Fu, K.3    Shoubridge, E.A.4
  • 8
    • 0030951244 scopus 로고    scopus 로고
    • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
    • Jenuth JP, Peterson AC, Shoubridge EA (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 16:93-95
    • (1997) Nat Genet , vol.16 , pp. 93-95
    • Jenuth, J.P.1    Peterson, A.C.2    Shoubridge, E.A.3
  • 9
    • 13844283117 scopus 로고    scopus 로고
    • In situ genotyping individual DNA molecules by target-primed rolling-circle amplification of Padlock probes
    • Larsson C, Koch J, Nygren A, Janssen GMC, Raap AK, Landegren U, Nilsson M (2004) In situ genotyping individual DNA molecules by target-primed rolling-circle amplification of Padlock probes. Nat Methods 1:227-232
    • (2004) Nat Methods , vol.1 , pp. 227-232
    • Larsson, C.1    Koch, J.2    Nygren, A.3    Janssen, G.M.C.4    Raap, A.K.5    Landegren, U.6    Nilsson, M.7
  • 10
    • 0033983248 scopus 로고    scopus 로고
    • Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA
    • Lehtinen SK, Hance N, El Meziane A, Juhola MK, Juhola KM, Karhu R, Spelbrink JN, et al. (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA. Genetics 154:363-380
    • (2000) Genetics , vol.154 , pp. 363-380
    • Lehtinen, S.K.1    Hance, N.2    El Meziane, A.3    Juhola, M.K.4    Juhola, K.M.5    Karhu, R.6    Spelbrink, J.N.7
  • 11
    • 0345701481 scopus 로고    scopus 로고
    • Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation
    • Torroni A, Campos Y, Rengo C, Sellitto D, Achilli A, Magri C, Semino O, et al. (2003) Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet 72:1005-1012
    • (2003) Am J Hum Genet , vol.72 , pp. 1005-1012
    • Torroni, A.1    Campos, Y.2    Rengo, C.3    Sellitto, D.4    Achilli, A.5    Magri, C.6    Semino, O.7
  • 12
    • 25444520989 scopus 로고    scopus 로고
    • Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cybrids
    • Turner CJ, Granycome C, Hurst R, Pohler E, Juhola MK, Juhola MI, Jacobs HT, et al. (2005) Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cybrids. Genetics 170:1879-1885
    • (2005) Genetics , vol.170 , pp. 1879-1885
    • Turner, C.J.1    Granycome, C.2    Hurst, R.3    Pohler, E.4    Juhola, M.K.5    Juhola, M.I.6    Jacobs, H.T.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.