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Volumn 670, Issue 1-2, 2009, Pages 68-73

A genetic approach to quantifying human in vivo mutation frequency uncovers transcription level effects

Author keywords

DNA damage; DNA mutations and gender; DNA repair; In vivo mutation frequency; Somatic mutation; Transcription levels

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE;

EID: 70350028184     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2009.07.008     Document Type: Article
Times cited : (4)

References (31)
  • 1
    • 0028157494 scopus 로고
    • International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo
    • Cole J., and Skopek T.R. International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo. Mutat. Res. 304 (1994) 33-105
    • (1994) Mutat. Res. , vol.304 , pp. 33-105
    • Cole, J.1    Skopek, T.R.2
  • 2
    • 0028608938 scopus 로고
    • Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients
    • Cole J., and Arlett C.F. Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients. Int. J. Radiat. Biol. 66 (1994) S123-131
    • (1994) Int. J. Radiat. Biol. , vol.66
    • Cole, J.1    Arlett, C.F.2
  • 3
    • 0026287580 scopus 로고
    • Hprt mutant frequencies in circulating lymphocytes: population studies using normal donors, exposed groups and cancer-prone syndromes
    • Cole J., Waugh A.P., Beare D.M., Sala-Trepat M., Stephens G., and Green M.H. Hprt mutant frequencies in circulating lymphocytes: population studies using normal donors, exposed groups and cancer-prone syndromes. Prog. Clin. Biol. Res. 372 (1991) 319-328
    • (1991) Prog. Clin. Biol. Res. , vol.372 , pp. 319-328
    • Cole, J.1    Waugh, A.P.2    Beare, D.M.3    Sala-Trepat, M.4    Stephens, G.5    Green, M.H.6
  • 4
    • 0032555055 scopus 로고    scopus 로고
    • The subclass approach for mutational spectrum analysis: application of the SEM algorithm
    • Glazko G.B., Milanesi L., and Rogozin I.B. The subclass approach for mutational spectrum analysis: application of the SEM algorithm. J. Theor. Biol. 192 (1998) 475-487
    • (1998) J. Theor. Biol. , vol.192 , pp. 475-487
    • Glazko, G.B.1    Milanesi, L.2    Rogozin, I.B.3
  • 6
    • 0141884343 scopus 로고    scopus 로고
    • Intestinal-type and liver-type fatty acid-binding protein in the intestine. Tissue distribution and clinical utility
    • Pelsers M.M., Namiot Z., Kisielewski W., Namiot A., Januszkiewicz M., Hermens W.T., and Glatz J.F. Intestinal-type and liver-type fatty acid-binding protein in the intestine. Tissue distribution and clinical utility. Clin. Biochem. 36 (2003) 529-535
    • (2003) Clin. Biochem. , vol.36 , pp. 529-535
    • Pelsers, M.M.1    Namiot, Z.2    Kisielewski, W.3    Namiot, A.4    Januszkiewicz, M.5    Hermens, W.T.6    Glatz, J.F.7
  • 7
    • 37549067351 scopus 로고    scopus 로고
    • Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment
    • van Zelm M.C., van der Burg M., and van Dongen J.J. Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment. Cell Cycle 6 (2007) 2890-2895
    • (2007) Cell Cycle , vol.6 , pp. 2890-2895
    • van Zelm, M.C.1    van der Burg, M.2    van Dongen, J.J.3
  • 8
    • 32544443022 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human neoplasia
    • Czarnecka A.M., Golik P., and Bartnik E. Mitochondrial DNA mutations in human neoplasia. J. Appl. Genet. 47 (2006) 67-78
    • (2006) J. Appl. Genet. , vol.47 , pp. 67-78
    • Czarnecka, A.M.1    Golik, P.2    Bartnik, E.3
  • 9
    • 33646871787 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations, energy metabolism and apoptosis in aging muscle
    • Dirks A.J., Hofer T., Marzetti E., Pahor M., and Leeuwenburgh C. Mitochondrial DNA mutations, energy metabolism and apoptosis in aging muscle. Ageing Res. Rev. 5 (2006) 179-195
    • (2006) Ageing Res. Rev. , vol.5 , pp. 179-195
    • Dirks, A.J.1    Hofer, T.2    Marzetti, E.3    Pahor, M.4    Leeuwenburgh, C.5
  • 10
    • 0037342752 scopus 로고    scopus 로고
    • Somatic gene mutation and human disease other than cancer
    • Erickson R.P. Somatic gene mutation and human disease other than cancer. Mutat. Res. 543 (2003) 125-136
    • (2003) Mutat. Res. , vol.543 , pp. 125-136
    • Erickson, R.P.1
  • 11
    • 1542374198 scopus 로고    scopus 로고
    • Problems of somatic mutation and cancer
    • Frank S.A., and Nowak M.A. Problems of somatic mutation and cancer. Bioessays 26 (2004) 291-299
    • (2004) Bioessays , vol.26 , pp. 291-299
    • Frank, S.A.1    Nowak, M.A.2
  • 12
    • 0037081814 scopus 로고    scopus 로고
    • High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain
    • Lin M.T., Simon D.K., Ahn C.H., Kim L.M., and Beal M.F. High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain. Hum. Mol. Genet. 11 (2002) 133-145
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 133-145
    • Lin, M.T.1    Simon, D.K.2    Ahn, C.H.3    Kim, L.M.4    Beal, M.F.5
  • 15
    • 0027198870 scopus 로고
    • Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient
    • Liu T.C., Kim H., Arizmendi C., Kitano A., and Patel M.S. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc. Natl. Acad. Sci. U.S.A. 90 (1993) 5186-5190
    • (1993) Proc. Natl. Acad. Sci. U.S.A. , vol.90 , pp. 5186-5190
    • Liu, T.C.1    Kim, H.2    Arizmendi, C.3    Kitano, A.4    Patel, M.S.5
  • 16
    • 34249337762 scopus 로고    scopus 로고
    • OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
    • Kovtun I.V., Liu Y., Bjoras M., Klungland A., Wilson S.H., and McMurray C.T. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447 (2007) 447-452
    • (2007) Nature , vol.447 , pp. 447-452
    • Kovtun, I.V.1    Liu, Y.2    Bjoras, M.3    Klungland, A.4    Wilson, S.H.5    McMurray, C.T.6
  • 17
    • 33646689347 scopus 로고    scopus 로고
    • Maintaining genetic integrity in aging: a zero sum game
    • Suh Y., and Vijg J. Maintaining genetic integrity in aging: a zero sum game. Antioxid. Redox Signal 8 (2006) 559-571
    • (2006) Antioxid. Redox Signal , vol.8 , pp. 559-571
    • Suh, Y.1    Vijg, J.2
  • 19
    • 0032779264 scopus 로고    scopus 로고
    • Influence of sex, smoking and age on human hprt mutation frequencies and spectra
    • Curry J., Karnaoukhova L., Guenette G.C., and Glickman B.W. Influence of sex, smoking and age on human hprt mutation frequencies and spectra. Genetics 152 (1999) 1065-1077
    • (1999) Genetics , vol.152 , pp. 1065-1077
    • Curry, J.1    Karnaoukhova, L.2    Guenette, G.C.3    Glickman, B.W.4
  • 21
    • 0034702373 scopus 로고    scopus 로고
    • Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients
    • Hackman P., Hou S.M., Nyberg F., Pershagen G., and Lambert B. Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients. Mutat. Res. 468 (2000) 45-61
    • (2000) Mutat. Res. , vol.468 , pp. 45-61
    • Hackman, P.1    Hou, S.M.2    Nyberg, F.3    Pershagen, G.4    Lambert, B.5
  • 22
    • 33644836197 scopus 로고    scopus 로고
    • iMARS-mutation analysis reporting software: an analysis of spontaneous cII mutation spectra
    • Morgan C., and Lewis P.D. iMARS-mutation analysis reporting software: an analysis of spontaneous cII mutation spectra. Mutat. Res. 603 (2006) 15-26
    • (2006) Mutat. Res. , vol.603 , pp. 15-26
    • Morgan, C.1    Lewis, P.D.2
  • 23
    • 0033385565 scopus 로고    scopus 로고
    • Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults
    • Podlutsky A., Hou S.M., Nyberg F., Pershagen G., and Lambert B. Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults. Mutat. Res. 431 (1999) 325-339
    • (1999) Mutat. Res. , vol.431 , pp. 325-339
    • Podlutsky, A.1    Hou, S.M.2    Nyberg, F.3    Pershagen, G.4    Lambert, B.5
  • 24
    • 0028366526 scopus 로고
    • Strand bias in mutation involving 5-methylcytosine deamination in the human hprt gene
    • Skandalis A., Ford B.N., and Glickman B.W. Strand bias in mutation involving 5-methylcytosine deamination in the human hprt gene. Mutat. Res. 314 (1994) 21-26
    • (1994) Mutat. Res. , vol.314 , pp. 21-26
    • Skandalis, A.1    Ford, B.N.2    Glickman, B.W.3
  • 25
    • 0035872462 scopus 로고    scopus 로고
    • TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution
    • Greenblatt M.S., Chappuis P.O., Bond J.P., Hamel N., and Foulkes W.D. TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. Cancer Res. 61 (2001) 4092-4097
    • (2001) Cancer Res. , vol.61 , pp. 4092-4097
    • Greenblatt, M.S.1    Chappuis, P.O.2    Bond, J.P.3    Hamel, N.4    Foulkes, W.D.5
  • 26
    • 0034646035 scopus 로고    scopus 로고
    • Mutation spectrum of MSH3-deficient HHUA/chr.2 cells reflects in vivo activity of the MSH3 gene product in mismatch repair
    • Tauchi H., Komatsu K., Ishizaki K., Yatagai F., and Kato T. Mutation spectrum of MSH3-deficient HHUA/chr.2 cells reflects in vivo activity of the MSH3 gene product in mismatch repair. Mutat. Res. 447 (2000) 155-164
    • (2000) Mutat. Res. , vol.447 , pp. 155-164
    • Tauchi, H.1    Komatsu, K.2    Ishizaki, K.3    Yatagai, F.4    Kato, T.5
  • 27
    • 0032850799 scopus 로고    scopus 로고
    • Molecular analysis of in vivo mutations induced by N-ethyl-N-nitrosourea in the autosomal Tk and the X-linked Hprt genes of mouse lymphocytes
    • Dobrovolsky V.N., Chen T., and Heflich R.H. Molecular analysis of in vivo mutations induced by N-ethyl-N-nitrosourea in the autosomal Tk and the X-linked Hprt genes of mouse lymphocytes. Environ. Mol. Mutagen. 34 (1999) 30-38
    • (1999) Environ. Mol. Mutagen. , vol.34 , pp. 30-38
    • Dobrovolsky, V.N.1    Chen, T.2    Heflich, R.H.3
  • 28
    • 0036469913 scopus 로고    scopus 로고
    • The connection between transcription and genomic instability
    • Aguilera A. The connection between transcription and genomic instability. EMBO J. 21 (2002) 195-201
    • (2002) EMBO J. , vol.21 , pp. 195-201
    • Aguilera, A.1
  • 29
    • 2442716495 scopus 로고    scopus 로고
    • Identification of a distinctive mutation spectrum associated with high levels of transcription in yeast
    • Lippert M.J., Freedman J.A., Barber M.A., and Jinks-Robertson S. Identification of a distinctive mutation spectrum associated with high levels of transcription in yeast. Mol. Cell Biol. 24 (2004) 4801-4809
    • (2004) Mol. Cell Biol. , vol.24 , pp. 4801-4809
    • Lippert, M.J.1    Freedman, J.A.2    Barber, M.A.3    Jinks-Robertson, S.4
  • 30
    • 4243157540 scopus 로고    scopus 로고
    • Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats
    • Mochmann L.H., and Wells R.D. Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats. Nucleic Acids Res. 32 (2004) 4469-4479
    • (2004) Nucleic Acids Res. , vol.32 , pp. 4469-4479
    • Mochmann, L.H.1    Wells, R.D.2
  • 31
    • 0032486117 scopus 로고    scopus 로고
    • Increased transcription decreases the spontaneous mutation rate at the thymidine kinase locus in human cells
    • Lippert M.J., Chen Q., and Liber H.L. Increased transcription decreases the spontaneous mutation rate at the thymidine kinase locus in human cells. Mutat. Res. 401 (1998) 1-10
    • (1998) Mutat. Res. , vol.401 , pp. 1-10
    • Lippert, M.J.1    Chen, Q.2    Liber, H.L.3


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