메뉴 건너뛰기




Volumn 49, Issue 6, 2008, Pages 417-425

Human germline and somatic cells have similar TP53 and Kirsten-RAS gene single base mutation frequencies

Author keywords

Germline mutation frequencies; Human sperm; KRAS; Single base substitution mutations; TP53

Indexed keywords

PROTEIN P53;

EID: 48249128289     PISSN: 08936692     EISSN: 10982280     Source Type: Journal    
DOI: 10.1002/em.20390     Document Type: Article
Times cited : (8)

References (59)
  • 1
    • 14644437137 scopus 로고    scopus 로고
    • Genetic tumor archeology: Microdissection and genetic heterogeneity in squamous and basal cell carcinoma
    • Backvall H, Asplund A, Gustafsson A, Sivertsson A, Lundeberg J, Ponten F. 2005. Genetic tumor archeology: Microdissection and genetic heterogeneity in squamous and basal cell carcinoma. Mutat Res 571:65-79.
    • (2005) Mutat Res , vol.571 , pp. 65-79
    • Backvall, H.1    Asplund, A.2    Gustafsson, A.3    Sivertsson, A.4    Lundeberg, J.5    Ponten, F.6
  • 2
    • 0035371274 scopus 로고    scopus 로고
    • Automated evaluation of frequencies of aneuploid sperm by laser-scanning cytometry (LSC)
    • Baumgartner A, Schmid TE, Maerz HK, Adler ID, Tarnok A, Nuesse M. 2001. Automated evaluation of frequencies of aneuploid sperm by laser-scanning cytometry (LSC). Cytometry 44:156-160.
    • (2001) Cytometry , vol.44 , pp. 156-160
    • Baumgartner, A.1    Schmid, T.E.2    Maerz, H.K.3    Adler, I.D.4    Tarnok, A.5    Nuesse, M.6
  • 3
    • 4644221304 scopus 로고    scopus 로고
    • Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin
    • Bendig I, Mohr N, Kramer F, Weber BH. 2004. Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. Cancer Genet Cytogenet 154:22-26.
    • (2004) Cancer Genet Cytogenet , vol.154 , pp. 22-26
    • Bendig, I.1    Mohr, N.2    Kramer, F.3    Weber, B.H.4
  • 4
    • 0025035254 scopus 로고
    • Cytogenetics of human sperm: Structural aberrations and DNA replication
    • Brandriff BF, Gordon LA, Carrano AV. 1990. Cytogenetics of human sperm: Structural aberrations and DNA replication. Prog Clin Biol Res B 340:425-434.
    • (1990) Prog Clin Biol Res B , vol.340 , pp. 425-434
    • Brandriff, B.F.1    Gordon, L.A.2    Carrano, A.V.3
  • 5
    • 33749226922 scopus 로고    scopus 로고
    • N-Nitrosamines
    • Philadelphia, Pa
    • Brown, JL. 1999. N-Nitrosamines. Occup Med (Philadelphia, Pa) 14:839-848.
    • (1999) Occup Med , vol.14 , pp. 839-848
    • Brown, J.L.1
  • 6
    • 0028289313 scopus 로고
    • Mutagen of the H-ras protooncogene and the p53 tumor suppressor gene
    • Cerutti P, Hussain P, Pourzand C, Aguilar F. 1994. Mutagen of the H-ras protooncogene and the p53 tumor suppressor gene. Cancer Res 54:1934s-1938s.
    • (1994) Cancer Res , vol.54
    • Cerutti, P.1    Hussain, P.2    Pourzand, C.3    Aguilar, F.4
  • 8
    • 0025364861 scopus 로고
    • The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
    • Cooper DN, Krawczak M. 1990. The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 85:55-74.
    • (1990) Hum Genet , vol.85 , pp. 55-74
    • Cooper, D.N.1    Krawczak, M.2
  • 9
    • 25144525484 scopus 로고    scopus 로고
    • Flow cytometry applications in the evaluation of sperm quality: Semen analysis, sperm function and DNA integrity
    • Cordelli E, Eleuteri P, Leter G, Rescia M, Spano M. 2005. Flow cytometry applications in the evaluation of sperm quality: Semen analysis, sperm function and DNA integrity. Contraception 72:273-279.
    • (2005) Contraception , vol.72 , pp. 273-279
    • Cordelli, E.1    Eleuteri, P.2    Leter, G.3    Rescia, M.4    Spano, M.5
  • 10
    • 0034303523 scopus 로고    scopus 로고
    • The origins, patterns and implications of human spontaneous mutation
    • Crow JF. 2000. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1:40-47.
    • (2000) Nat Rev Genet , vol.1 , pp. 40-47
    • Crow, J.F.1
  • 11
    • 33749577195 scopus 로고    scopus 로고
    • Age and sex effects on human mutation rates: An old problem with new complexities
    • Crow, JF. 2006. Age and sex effects on human mutation rates: An old problem with new complexities. J Radiat Res (Tokyo) 47 (Suppl B):B75-B82.
    • (2006) J Radiat Res (Tokyo) , vol.47 , Issue.SUPPL. B
    • Crow, J.F.1
  • 12
    • 0029078029 scopus 로고
    • Biological basis of germline mutation: Comparisons of spontaneous germline mutation rates among drosophila, mouse, and human
    • Drost JB, Lee WR. 1995. Biological basis of germline mutation: Comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. Environ Mol Mutagen 26:48-64.
    • (1995) Environ Mol Mutagen , vol.26 , pp. 48-64
    • Drost, J.B.1    Lee, W.R.2
  • 13
    • 0142059634 scopus 로고    scopus 로고
    • The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm
    • Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. 2003. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet 73:939-947.
    • (2003) Am J Hum Genet , vol.73 , pp. 939-947
    • Glaser, R.L.1    Broman, K.W.2    Schulman, R.L.3    Eskenazi, B.4    Wyrobek, A.J.5    Jabs, E.W.6
  • 14
    • 0042490798 scopus 로고    scopus 로고
    • Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    • Goriely A, McVean GA, Rojmyr M, Ingemarsson B, Wilkie AO. 2003. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301:643-646.
    • (2003) Science , vol.301 , pp. 643-646
    • Goriely, A.1    McVean, G.A.2    Rojmyr, M.3    Ingemarsson, B.4    Wilkie, A.O.5
  • 16
    • 14644419658 scopus 로고    scopus 로고
    • Inflammation, gene mutation and photoimmunosuppression in response to UVR-induced oxidative damage contributes to photocarcinogenesis
    • Halliday GM. 2005. Inflammation, gene mutation and photoimmunosuppression in response to UVR-induced oxidative damage contributes to photocarcinogenesis. Mutat Res 571:107-120.
    • (2005) Mutat Res , vol.571 , pp. 107-120
    • Halliday, G.M.1
  • 17
    • 0034614637 scopus 로고    scopus 로고
    • The hallmarks of cancer
    • Hanahan D, Weinberg RA. 2000. The hallmarks of cancer. Cell 100:57-70.
    • (2000) Cell , vol.100 , pp. 57-70
    • Hanahan, D.1    Weinberg, R.A.2
  • 18
    • 0035319804 scopus 로고    scopus 로고
    • To err (meiotically) is human: The genesis of human aneuploidy
    • Hassold T, Hunt P. 2001. To err (meiotically) is human: The genesis of human aneuploidy. Nat Rev Genet 2:280-291.
    • (2001) Nat Rev Genet , vol.2 , pp. 280-291
    • Hassold, T.1    Hunt, P.2
  • 19
    • 38449087657 scopus 로고    scopus 로고
    • The origin of human aneuploidy: Where we have been, where we are going
    • Hassold T, Hall H, Hunt P. 2007. The origin of human aneuploidy: Where we have been, where we are going. Hum Mol Genet 16 (Spec No.2):R203-R208.
    • (2007) Hum Mol Genet , vol.16 , Issue.SPEC 2
    • Hassold, T.1    Hall, H.2    Hunt, P.3
  • 23
    • 33847161650 scopus 로고    scopus 로고
    • An unexpected new role of mutant Ras: Perturbation of human embryonic development
    • Kratz CP, Niemeyer CM, Zenker M. 2007a. An unexpected new role of mutant Ras: Perturbation of human embryonic development. J Mol Med 85:223-231.
    • (2007) J Mol Med , vol.85 , pp. 223-231
    • Kratz, C.P.1    Niemeyer, C.M.2    Zenker, M.3
  • 24
    • 33847329781 scopus 로고    scopus 로고
    • Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: Lessons from Costello syndrome
    • Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M. 2007b. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: Lessons from Costello syndrome. Hum Mol Genet 16:374-379.
    • (2007) Hum Mol Genet , vol.16 , pp. 374-379
    • Kratz, C.P.1    Steinemann, D.2    Niemeyer, C.M.3    Schlegelberger, B.4    Koscielniak, E.5    Kontny, U.6    Zenker, M.7
  • 25
    • 0016824588 scopus 로고
    • The significance of oral contraceptives in causing chromosome anomalies in spontaneous abortions
    • Lauritsen JG. 1975. The significance of oral contraceptives in causing chromosome anomalies in spontaneous abortions. Acta Obstet Gynecol Scand 54:261-264.
    • (1975) Acta Obstet Gynecol Scand , vol.54 , pp. 261-264
    • Lauritsen, J.G.1
  • 26
    • 0033565398 scopus 로고    scopus 로고
    • N-Nitroso compounds in the diet
    • Lijinsky W. 1999. N-Nitroso compounds in the diet. Mutat Res 443:129-138.
    • (1999) Mutat Res , vol.443 , pp. 129-138
    • Lijinsky, W.1
  • 28
    • 0028333951 scopus 로고
    • Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer
    • Magewu AN, Jones PA. 1994. Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer. Mol Cell Biol 14:4225-4232.
    • (1994) Mol Cell Biol , vol.14 , pp. 4225-4232
    • Magewu, A.N.1    Jones, P.A.2
  • 29
    • 23844495086 scopus 로고    scopus 로고
    • Mechanisms and consequences of paternally-transmitted chromosomal abnormalities
    • Marchetti F, Wyrobek AJ. 2005. Mechanisms and consequences of paternally-transmitted chromosomal abnormalities. Birth Defects Res C Embryo Today 75:112-129.
    • (2005) Birth Defects Res C Embryo Today , vol.75 , pp. 112-129
    • Marchetti, F.1    Wyrobek, A.J.2
  • 30
    • 0027411192 scopus 로고
    • Effects of chemotherapy and radiotherapy on spermatogenesis
    • discussion 142
    • Meistrich, ML. 1993. Effects of chemotherapy and radiotherapy on spermatogenesis. Eur Urol 23:136-141; discussion 142.
    • (1993) Eur Urol , vol.23 , pp. 136-141
    • Meistrich, M.L.1
  • 31
    • 0033828761 scopus 로고    scopus 로고
    • Estimate of the mutation rate per nucleotide in humans
    • Nachman MW, Crowell SL. 2000. Estimate of the mutation rate per nucleotide in humans. Genetics 156:297-304.
    • (2000) Genetics , vol.156 , pp. 297-304
    • Nachman, M.W.1    Crowell, S.L.2
  • 32
    • 0036258111 scopus 로고    scopus 로고
    • The IARC TP53 database: New online mutation analysis and recommendations to users
    • Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P. 2002. The IARC TP53 database: New online mutation analysis and recommendations to users. Hum Mutat 19:607-614.
    • (2002) Hum Mutat , vol.19 , pp. 607-614
    • Olivier, M.1    Eeles, R.2    Hollstein, M.3    Khan, M.A.4    Harris, C.C.5    Hainaut, P.6
  • 33
    • 0142157701 scopus 로고    scopus 로고
    • Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype
    • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. 2003. Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643-6650.
    • (2003) Cancer Res , vol.63 , pp. 6643-6650
    • Olivier, M.1    Goldgar, D.E.2    Sodha, N.3    Ohgaki, H.4    Kleihues, P.5    Hainaut, P.6    Eeles, R.A.7
  • 34
    • 0028228304 scopus 로고
    • Identification of two human sperm populations using flow and image cytometry
    • Pasteur X, Metezeau P, Maubon I, Sabido O, Kiefer H. 1994. Identification of two human sperm populations using flow and image cytometry. Mol Reprod Dev 38:303-309.
    • (1994) Mol Reprod Dev , vol.38 , pp. 303-309
    • Pasteur, X.1    Metezeau, P.2    Maubon, I.3    Sabido, O.4    Kiefer, H.5
  • 37
    • 0036091449 scopus 로고    scopus 로고
    • Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy
    • Rubes J, Vozdova M, Robbins WA, Rezacova O, Perreault SD, Wyrobek AJ. 2002. Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy. Am J Hum Genet 70:1507-1519.
    • (2002) Am J Hum Genet , vol.70 , pp. 1507-1519
    • Rubes, J.1    Vozdova, M.2    Robbins, W.A.3    Rezacova, O.4    Perreault, S.D.5    Wyrobek, A.J.6
  • 38
    • 0018080015 scopus 로고
    • Direct analysis of the chromosome constitution of human spermatozoa
    • Rudak E, Jacobs PA, Yanagimachi R. 1978. Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911-913.
    • (1978) Nature , vol.274 , pp. 911-913
    • Rudak, E.1    Jacobs, P.A.2    Yanagimachi, R.3
  • 39
    • 0020341190 scopus 로고
    • Nonenzymatic methylation of DNA by the intracellular methyl group donor S-adenosyl-L-methionine is a potentially mutagenic reaction
    • Rydberg B, Lindahl T. 1982. Nonenzymatic methylation of DNA by the intracellular methyl group donor S-adenosyl-L-methionine is a potentially mutagenic reaction. EMBO J 1:211-216.
    • (1982) EMBO J , vol.1 , pp. 211-216
    • Rydberg, B.1    Lindahl, T.2
  • 40
    • 3042647642 scopus 로고    scopus 로고
    • Detection of structural and numerical chromosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermie infertility patients
    • Schmid TE, Brinkworth MH, Hill F, Sloter E, Kamischke A, Marchetti F, Nieschlag E, Wyrobek AJ. 2004. Detection of structural and numerical chromosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermie infertility patients. Hum Reprod 19: 1395-1400.
    • (2004) Hum Reprod , vol.19 , pp. 1395-1400
    • Schmid, T.E.1    Brinkworth, M.H.2    Hill, F.3    Sloter, E.4    Kamischke, A.5    Marchetti, F.6    Nieschlag, E.7    Wyrobek, A.J.8
  • 41
    • 0031825169 scopus 로고    scopus 로고
    • Major impacts of gonadal mosaicism on hereditary risk estimation, origin of hereditary diseases, and evolution
    • Selby PB. 1998. Major impacts of gonadal mosaicism on hereditary risk estimation, origin of hereditary diseases, and evolution. Genetica 102/103:445-462.
    • (1998) Genetica , vol.102-103 , pp. 445-462
    • Selby, P.B.1
  • 42
    • 0346786530 scopus 로고    scopus 로고
    • Description of first germinal mosaic mutation identified in dominant skeletal mutation experiments and considerations about how to deal with this kind of spontaneous mutation in analyses
    • Selby PB, Earhart VS, Garrison EM, Raymer GD. 2004. Description of first germinal mosaic mutation identified in dominant skeletal mutation experiments and considerations about how to deal with this kind of spontaneous mutation in analyses. Mutat Res 545:109-115.
    • (2004) Mutat Res , vol.545 , pp. 109-115
    • Selby, P.B.1    Earhart, V.S.2    Garrison, E.M.3    Raymer, G.D.4
  • 43
    • 0037357426 scopus 로고    scopus 로고
    • Oxidative stress and ulcerative colitis-associated carcinogenesis: Studies in humans and animal models
    • Seril DN, Liao J, Yang GY, Yang CS. 2003. Oxidative stress and ulcerative colitis-associated carcinogenesis: Studies in humans and animal models. Carcinogenesis 24:353-362.
    • (2003) Carcinogenesis , vol.24 , pp. 353-362
    • Seril, D.N.1    Liao, J.2    Yang, G.Y.3    Yang, C.S.4
  • 44
    • 0027299785 scopus 로고
    • Fertility, reproduction, and genetic disease: Studies on the mutagenic effects of environmental agents on mammalian germ cells
    • Shelby MD, Bishop JB, Mason JM, Tindall KR. 1993. Fertility, reproduction, and genetic disease: Studies on the mutagenic effects of environmental agents on mammalian germ cells. Environ Health Perspect 100:283-291.
    • (1993) Environ Health Perspect , vol.100 , pp. 283-291
    • Shelby, M.D.1    Bishop, J.B.2    Mason, J.M.3    Tindall, K.R.4
  • 45
    • 0033804539 scopus 로고    scopus 로고
    • Multicolor FISH analysis of chromosomal breaks, duplications, deletions, and numerical abnormalities in the sperm of healthy men
    • Sloter ED, Lowe X, Moore ID, Nath J, Wyrobek AJ. 2000. Multicolor FISH analysis of chromosomal breaks, duplications, deletions, and numerical abnormalities in the sperm of healthy men. Am J Hum Genet 67:862-872.
    • (2000) Am J Hum Genet , vol.67 , pp. 862-872
    • Sloter, E.D.1    Lowe, X.2    Moore, I.D.3    Nath, J.4    Wyrobek, A.J.5
  • 50
    • 0027219422 scopus 로고
    • Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders
    • Tommerup N. 1993. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet 30:713-727.
    • (1993) J Med Genet , vol.30 , pp. 713-727
    • Tommerup, N.1
  • 51
    • 0037222381 scopus 로고    scopus 로고
    • Germline TP53 mutations and Li-Fraumeni syndrome
    • Varley JM. 2003. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313-320.
    • (2003) Hum Mutat , vol.21 , pp. 313-320
    • Varley, J.M.1
  • 52
    • 9144234727 scopus 로고    scopus 로고
    • Wiederkehr C, Basavaraj R, Sarrauste de Menthiere C, Hermida L, Koch R, Schlecht U, Amon A, Brachat S, Breitenbach M, Briza P, Caburet S, Cherry M, Davis R, Deutschbauer A, Dickinson HG, Duinitrescu T, Fellous M, Goldman A, Grootegoed JA, Hawley R, Ishii R, Jegou B, Kaufman RJ, Klein F, Lamb N, Maro B, Nasmyth K, Nicolas A, Orr-Weaver T, Philippsen P, Pineau C, Rabitsch KP, Reinke V, Roest H, Saunders W, Schroder M, Schedl T, Step M, Villeneuve A, Wolgemuth DJ, Yamamoto M, Zickler D, Esposito RE, Primig M. 2004. GermOnline, a cross-species community knowledge-base on germ cell differentiation. Nucleic Acids Res 32:D560-D567.
    • Wiederkehr C, Basavaraj R, Sarrauste de Menthiere C, Hermida L, Koch R, Schlecht U, Amon A, Brachat S, Breitenbach M, Briza P, Caburet S, Cherry M, Davis R, Deutschbauer A, Dickinson HG, Duinitrescu T, Fellous M, Goldman A, Grootegoed JA, Hawley R, Ishii R, Jegou B, Kaufman RJ, Klein F, Lamb N, Maro B, Nasmyth K, Nicolas A, Orr-Weaver T, Philippsen P, Pineau C, Rabitsch KP, Reinke V, Roest H, Saunders W, Schroder M, Schedl T, Step M, Villeneuve A, Wolgemuth DJ, Yamamoto M, Zickler D, Esposito RE, Primig M. 2004. GermOnline, a cross-species community knowledge-base on germ cell differentiation. Nucleic Acids Res 32:D560-D567.
  • 54
    • 0035552215 scopus 로고    scopus 로고
    • Detecting rare mutations associated with cancer risk
    • Wilson VL. 2001. Detecting rare mutations associated with cancer risk. Am J Pharmacogenomics 1:283-293.
    • (2001) Am J Pharmacogenomics , vol.1 , pp. 283-293
    • Wilson, V.L.1
  • 56
    • 0034114254 scopus 로고    scopus 로고
    • Oncogenic base substitution mutations in circulating leukocytes of normal individuals
    • Wilson VL, Yin X, Thompson B, Wade KR, Watkins JP, Wei Q, Lee WR. 2000. Oncogenic base substitution mutations in circulating leukocytes of normal individuals. Cancer Res 60:1830-1834.
    • (2000) Cancer Res , vol.60 , pp. 1830-1834
    • Wilson, V.L.1    Yin, X.2    Thompson, B.3    Wade, K.R.4    Watkins, J.P.5    Wei, Q.6    Lee, W.R.7
  • 57
    • 0035916390 scopus 로고    scopus 로고
    • Temporal delineation of sequential HPRT mutations arising in vivo in a T-cell clone with a mutator phenotype
    • Wilson VL, Wade KR, Yin X, Albertini RJ. 2001. Temporal delineation of sequential HPRT mutations arising in vivo in a T-cell clone with a mutator phenotype. Mutat Res 473:181-199.
    • (2001) Mutat Res , vol.473 , pp. 181-199
    • Wilson, V.L.1    Wade, K.R.2    Yin, X.3    Albertini, R.J.4
  • 59
    • 0037177537 scopus 로고    scopus 로고
    • Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene
    • Zhang Y, Monckton DG, Siciliano MJ, Connor TH, Meistrich ML. 2002. Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene. Mutat Res 516:121-138.
    • (2002) Mutat Res , vol.516 , pp. 121-138
    • Zhang, Y.1    Monckton, D.G.2    Siciliano, M.J.3    Connor, T.H.4    Meistrich, M.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.