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2020 | OriginalPaper | Buchkapitel

10. Veränderungen im Genom: Mutationen

verfasst von : Jochen Graw

Erschienen in: Genetik

Verlag: Springer Berlin Heidelberg

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Zusammenfassung

Ausgangspunkt aller Erkenntnisse über die Regeln und die molekularen Mechanismen der Vererbung sowie über die Umsetzung von erblicher Information in Stoffwechselfunktionen ist die Variabilität von Merkmalen. Diese Variabilität erst gestattet es uns, bestimmte biologische Eigenschaften und Prozesse auf ihre Ursachen hin zu untersuchen.
Biologische Variabilität dient aber nicht nur als eine Grundlage für die experimentelle Erforschung von Erbvorgängen. Sie bietet vielmehr die Voraussetzungen für die Evolution der Organismen. Sie ist somit ein grundlegender und unverzichtbarer Bestandteil der Natur. Es ist daher nicht verwunderlich, dass Mechanismen, die Veränderungen des genetischen Materials verursachen, also Variabilität erzeugen, zu den fundamentalen Genomfunktionen von Organismen gehören. So werden während der Replikation des genetischen Materials mit einer bestimmten Häufigkeit Fehler induziert. Außerdem kann es zu spontanen Basenveränderungen durch die chemische Instabilität einiger Nukleotide kommen, oder es treten Fehler im Zusammenhang mit Rekombinationsvorgängen auf. Neben solchen und anderen endogenen Mutationsmechanismen können Veränderungen aber auch von außen her induziert werden, so insbesondere durch natürliche oder technisch hergestellte energiereiche Strahlung sowie durch chemische Stoffe.

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Literatur
Zurück zum Zitat Acharya M, Mookherjee S, Bhattacharjee A et al (2007) Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. BMC Mol Biol 8:21CrossRefPubMedPubMedCentral Acharya M, Mookherjee S, Bhattacharjee A et al (2007) Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. BMC Mol Biol 8:21CrossRefPubMedPubMedCentral
Zurück zum Zitat Adler ID, Schmid TE, Baumgartner A (2002) Induction of aneuploidy in male mouse germ cells detected by the sperm-FISH assay: a review of the present data base. Mutat Res 504:173–182PubMed Adler ID, Schmid TE, Baumgartner A (2002) Induction of aneuploidy in male mouse germ cells detected by the sperm-FISH assay: a review of the present data base. Mutat Res 504:173–182PubMed
Zurück zum Zitat Ahmad N, Mukhtar Z (2017) Genetic manipulations in crops: challenges and opportunities. Genomics 109:494–505PubMed Ahmad N, Mukhtar Z (2017) Genetic manipulations in crops: challenges and opportunities. Genomics 109:494–505PubMed
Zurück zum Zitat Aikens RC, Johnson KE, Voight BF (2019) Signals of variation in human mutation rate at multiple levels of sequence context. Mol Biol Evol 36:955–965PubMedPubMedCentral Aikens RC, Johnson KE, Voight BF (2019) Signals of variation in human mutation rate at multiple levels of sequence context. Mol Biol Evol 36:955–965PubMedPubMedCentral
Zurück zum Zitat Ainsbury EA, Bakhanova E, Barquinero JF et al (2011) Review of retrospective dosimetry techniques for external ionising radiation exposures. Radiat Prot Dosimetry 147:573–592PubMed Ainsbury EA, Bakhanova E, Barquinero JF et al (2011) Review of retrospective dosimetry techniques for external ionising radiation exposures. Radiat Prot Dosimetry 147:573–592PubMed
Zurück zum Zitat Ames BN, Durston WE, Yamasaki E et al (1973) Carcinogens are mutagens: a simple test system combining liver homogenates for activation and bacteria for detection. Proc Natl Acad Sci USA 70:2281–2285PubMed Ames BN, Durston WE, Yamasaki E et al (1973) Carcinogens are mutagens: a simple test system combining liver homogenates for activation and bacteria for detection. Proc Natl Acad Sci USA 70:2281–2285PubMed
Zurück zum Zitat Andersson L (2001) Genetic dissection of phenotypic diversity in farm animals. Nat Rev Genet 2:130–138PubMed Andersson L (2001) Genetic dissection of phenotypic diversity in farm animals. Nat Rev Genet 2:130–138PubMed
Zurück zum Zitat Andersson L, Georges M (2004) Domestic-animal genomics: deciphering the genetics of complex traits. Nat Rev Genet 5:202–212PubMed Andersson L, Georges M (2004) Domestic-animal genomics: deciphering the genetics of complex traits. Nat Rev Genet 5:202–212PubMed
Zurück zum Zitat Auerbach C (1978) Forty years of mutation research: a pilgrim’s progress. Heredity 40:177–187PubMed Auerbach C (1978) Forty years of mutation research: a pilgrim’s progress. Heredity 40:177–187PubMed
Zurück zum Zitat Banerjee A, Yang W, Karplus M et al (2005) Structure of a repair enzyme interrogating undamaged DNA elucidates recognition of damaged DNA. Nature 434:612–618PubMed Banerjee A, Yang W, Karplus M et al (2005) Structure of a repair enzyme interrogating undamaged DNA elucidates recognition of damaged DNA. Nature 434:612–618PubMed
Zurück zum Zitat Baron U, Bujard H (2000) Tet repressor-based system for regulated gene expression in eukaryotic cells: principles and advances. Methods Enzymol 327:401–421PubMed Baron U, Bujard H (2000) Tet repressor-based system for regulated gene expression in eukaryotic cells: principles and advances. Methods Enzymol 327:401–421PubMed
Zurück zum Zitat Belizário JE, Akamini P, Wolf P et al (2012) New routes for transgenesis of the mouse. J Appl Genet 53:295–315PubMed Belizário JE, Akamini P, Wolf P et al (2012) New routes for transgenesis of the mouse. J Appl Genet 53:295–315PubMed
Zurück zum Zitat Benzer S (1961) On the topography of the genetic fine structure. Proc Natl Acad Sci USA 47:403–415PubMed Benzer S (1961) On the topography of the genetic fine structure. Proc Natl Acad Sci USA 47:403–415PubMed
Zurück zum Zitat Brennecke H (1937) Strahlenschäden von Mäuse- und Rattensperma, beobachtet an der Frühentwicklung der Eier. Strahlentherapie 60:214–238 Brennecke H (1937) Strahlenschäden von Mäuse- und Rattensperma, beobachtet an der Frühentwicklung der Eier. Strahlentherapie 60:214–238
Zurück zum Zitat Campbell CD, Chong JX, Malig M et al (2012) Estimating the human mutation rate using autozygosity in a founder population. Nat Genet 44:1277–1281PubMedPubMedCentral Campbell CD, Chong JX, Malig M et al (2012) Estimating the human mutation rate using autozygosity in a founder population. Nat Genet 44:1277–1281PubMedPubMedCentral
Zurück zum Zitat Capecchi MR (1989) The new mouse genetics: altering the genome by gene targeting. Trends Genet 5:70–76PubMed Capecchi MR (1989) The new mouse genetics: altering the genome by gene targeting. Trends Genet 5:70–76PubMed
Zurück zum Zitat Chan K, Gordenin DA (2015) Clusters of multiple mutations: incidence and molecular mechanisms. Annu Rev Genet 49:243–267PubMedPubMedCentral Chan K, Gordenin DA (2015) Clusters of multiple mutations: incidence and molecular mechanisms. Annu Rev Genet 49:243–267PubMedPubMedCentral
Zurück zum Zitat Chattopadhyay P, Banerjee G (2018) Recent advancement on chemical arsenal of Bt toxin and its application in pest management system in agricultural field. 3 Biotech 8:201CrossRefPubMedPubMedCentral Chattopadhyay P, Banerjee G (2018) Recent advancement on chemical arsenal of Bt toxin and its application in pest management system in agricultural field. 3 Biotech 8:201CrossRefPubMedPubMedCentral
Zurück zum Zitat Cimino MC (2006) Comparative overview of current international strategies and guidelines for genetic toxicology testing for regulatory purposes. Environ Mol Mutagen 47:362–390PubMed Cimino MC (2006) Comparative overview of current international strategies and guidelines for genetic toxicology testing for regulatory purposes. Environ Mol Mutagen 47:362–390PubMed
Zurück zum Zitat Colman A (1999) Dolly, Polly and other „ollys“: likely impact of cloning technology on biomedical uses of livestock. Genet Anal 15:167–173PubMed Colman A (1999) Dolly, Polly and other „ollys“: likely impact of cloning technology on biomedical uses of livestock. Genet Anal 15:167–173PubMed
Zurück zum Zitat Comai L (2005) The advantages and disadvantages of being polyploid. Nat Rev Genet 6:836–846PubMed Comai L (2005) The advantages and disadvantages of being polyploid. Nat Rev Genet 6:836–846PubMed
Zurück zum Zitat De Cort M, Dubois G, Fridman SD et al (1998) Atlas of caesium deposition on Europe after the Chernobyl accident. Rept EUR 16733. European Commission, Luxembourg De Cort M, Dubois G, Fridman SD et al (1998) Atlas of caesium deposition on Europe after the Chernobyl accident. Rept EUR 16733. European Commission, Luxembourg
Zurück zum Zitat Cote I, Andersen ME, Ankley GT et al (2016) The next generation of risk assessment multi-year study-highlights of findings, applications to risk assessment, and future directions. Environ Health Perspect 124:1671–1682PubMedPubMedCentral Cote I, Andersen ME, Ankley GT et al (2016) The next generation of risk assessment multi-year study-highlights of findings, applications to risk assessment, and future directions. Environ Health Perspect 124:1671–1682PubMedPubMedCentral
Zurück zum Zitat Cox MM (2002) The nonmutagenic repair of broken replication forks via recombination. Mutat Res 510:107–120PubMed Cox MM (2002) The nonmutagenic repair of broken replication forks via recombination. Mutat Res 510:107–120PubMed
Zurück zum Zitat Cutts SM, Nudelman A, Rephaeli A et al (2005) The power and potential of doxorubicin-DNA adducts. Iubmb Life 57:73–81PubMed Cutts SM, Nudelman A, Rephaeli A et al (2005) The power and potential of doxorubicin-DNA adducts. Iubmb Life 57:73–81PubMed
Zurück zum Zitat Ekser B, Li P, Cooper DKC (2017) Xenotransplantation: past, present, and future. Curr Opin Organ Transplant 22:513–521PubMedPubMedCentral Ekser B, Li P, Cooper DKC (2017) Xenotransplantation: past, present, and future. Curr Opin Organ Transplant 22:513–521PubMedPubMedCentral
Zurück zum Zitat Feuillet C, Langridge P, Waugh R (2008) Cereal breeding takes a walk on the wild side. Trends Genet 24:24–32PubMed Feuillet C, Langridge P, Waugh R (2008) Cereal breeding takes a walk on the wild side. Trends Genet 24:24–32PubMed
Zurück zum Zitat Fresco JR, Amosova O (2017) Site-specific self-catalyzed DNA depurination: a biological mechanism that leads to mutations and creates sequence diversity. Annu Rev Biochem 86:461–484PubMed Fresco JR, Amosova O (2017) Site-specific self-catalyzed DNA depurination: a biological mechanism that leads to mutations and creates sequence diversity. Annu Rev Biochem 86:461–484PubMed
Zurück zum Zitat Fromm M, Taylor LP, Walbot V (1985) Expression of genes transferred into monocot and dicot plant cells by electroporation. Proc Natl Acad Sci USA 82:5824–5828PubMed Fromm M, Taylor LP, Walbot V (1985) Expression of genes transferred into monocot and dicot plant cells by electroporation. Proc Natl Acad Sci USA 82:5824–5828PubMed
Zurück zum Zitat Fujii J, Otsu K, Zorzato F et al (1991) Identification of a mutation in the porcine ryanodine receptor associated with malignant hyperthermia. Science 253:448–451PubMed Fujii J, Otsu K, Zorzato F et al (1991) Identification of a mutation in the porcine ryanodine receptor associated with malignant hyperthermia. Science 253:448–451PubMed
Zurück zum Zitat Garfinkel DJ, Nester EW (1980) Agrobacterium tumefaciens mutants affected in crown gall tumorigenesis and octopine catabolism. J Bacteriol 144:732–743PubMedPubMedCentral Garfinkel DJ, Nester EW (1980) Agrobacterium tumefaciens mutants affected in crown gall tumorigenesis and octopine catabolism. J Bacteriol 144:732–743PubMedPubMedCentral
Zurück zum Zitat Gusella JF, MacDonald ME (2000) Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci 1:109–115PubMed Gusella JF, MacDonald ME (2000) Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci 1:109–115PubMed
Zurück zum Zitat Haldane JBS (1935) The rate of spontaneous mutation in the human gene. J Genet 31:317–326 Haldane JBS (1935) The rate of spontaneous mutation in the human gene. J Genet 31:317–326
Zurück zum Zitat Hannan AJ (2018) Tandem repeats mediating genetic plasticity in health and disease. Nat Rev Genet 19:286–298PubMed Hannan AJ (2018) Tandem repeats mediating genetic plasticity in health and disease. Nat Rev Genet 19:286–298PubMed
Zurück zum Zitat Harris K (2015) Evidence for recent, population-specific evolution of the human mutation rate. Proc Natl Acad Sci USA 112:3439–3444PubMed Harris K (2015) Evidence for recent, population-specific evolution of the human mutation rate. Proc Natl Acad Sci USA 112:3439–3444PubMed
Zurück zum Zitat Hastings PJ, Ira G, Lupski JR (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327PubMedPubMedCentral Hastings PJ, Ira G, Lupski JR (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327PubMedPubMedCentral
Zurück zum Zitat Hazari YM, Bashir A, Habib M et al (2017) Alpha-1-antitrypsin deficiency: genetic variations, clinical manifestations and therapeutic interventions. Mutat Res 773:14–25PubMed Hazari YM, Bashir A, Habib M et al (2017) Alpha-1-antitrypsin deficiency: genetic variations, clinical manifestations and therapeutic interventions. Mutat Res 773:14–25PubMed
Zurück zum Zitat Hegarty MJ, Hiscock SJ (2008) Genomic clues to the evolutionary success of polyploidy plants. Curr Biol 18:R435–R444PubMed Hegarty MJ, Hiscock SJ (2008) Genomic clues to the evolutionary success of polyploidy plants. Curr Biol 18:R435–R444PubMed
Zurück zum Zitat Hellmich RL, Hellmich KA (2012) Use and impact of Bt maize. Nat Edu Know 3:4 Hellmich RL, Hellmich KA (2012) Use and impact of Bt maize. Nat Edu Know 3:4
Zurück zum Zitat Herman RK, Dworkin NB (1971) Effect of gene induction on the rate of mutagenesis by ICR-191 in Escherichia coli. J Bacteriol 106:543–550PubMedPubMedCentral Herman RK, Dworkin NB (1971) Effect of gene induction on the rate of mutagenesis by ICR-191 in Escherichia coli. J Bacteriol 106:543–550PubMedPubMedCentral
Zurück zum Zitat Hertwig P (1935) Sterilitätserscheinungen bei röntgenbestrahlten Mäusen. Z Indukt Abstamm Vererbungsl 70:517–523 Hertwig P (1935) Sterilitätserscheinungen bei röntgenbestrahlten Mäusen. Z Indukt Abstamm Vererbungsl 70:517–523
Zurück zum Zitat Hillen W, Berens C (2002) Tetracyclin-gesteuerte Genregulation: Vom bakteriellen Ursprung zum eukaryotischen Werkzeug. BIOspektrum 8:355–358 Hillen W, Berens C (2002) Tetracyclin-gesteuerte Genregulation: Vom bakteriellen Ursprung zum eukaryotischen Werkzeug. BIOspektrum 8:355–358
Zurück zum Zitat Hintzsche H, Reimann H, Stopper H (2018) Schicksal von Mikrokernen und mikrokernhaltigen Zellen. BIOspektrum 24:379–381 Hintzsche H, Reimann H, Stopper H (2018) Schicksal von Mikrokernen und mikrokernhaltigen Zellen. BIOspektrum 24:379–381
Zurück zum Zitat Holsters M, de Waele D, Depicker A et al (1978) Transfection and transformation of Agrobacterium tumefaciens. Mol Gen Genet 163:181–187PubMed Holsters M, de Waele D, Depicker A et al (1978) Transfection and transformation of Agrobacterium tumefaciens. Mol Gen Genet 163:181–187PubMed
Zurück zum Zitat Hrabé de Angelis MH, Flaswinkel H, Fuchs H et al (2000) Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 25:444–447PubMed Hrabé de Angelis MH, Flaswinkel H, Fuchs H et al (2000) Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 25:444–447PubMed
Zurück zum Zitat Iafrate AJ, Feuk L, Rivera MN et al (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949–951PubMed Iafrate AJ, Feuk L, Rivera MN et al (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949–951PubMed
Zurück zum Zitat International Wheat Genome Sequencing Consortium (IWGSC) (2018) Shifting the limits in wheat research and breeding using a fully annotated reference genome. Science 361:aar7191 International Wheat Genome Sequencing Consortium (IWGSC) (2018) Shifting the limits in wheat research and breeding using a fully annotated reference genome. Science 361:aar7191
Zurück zum Zitat Ishikawa T (2017) Radiation doses and associated risk from the Fukushima nuclear accident. Asia Pac J Public Health 29(Suppl 2):18S–28SPubMed Ishikawa T (2017) Radiation doses and associated risk from the Fukushima nuclear accident. Asia Pac J Public Health 29(Suppl 2):18S–28SPubMed
Zurück zum Zitat Joung KJ, Sander JD (2013) TALENs: a widely applicable technology for targeted genome editing. Nat Rev Mol Cell Biol 14:49–55PubMed Joung KJ, Sander JD (2013) TALENs: a widely applicable technology for targeted genome editing. Nat Rev Mol Cell Biol 14:49–55PubMed
Zurück zum Zitat Kaniecki K, De Tullio L, Greene EC (2017) A change of view: homologous recombination at single-molecule resolution. Nat Rev Genet 19:191–207PubMedPubMedCentral Kaniecki K, De Tullio L, Greene EC (2017) A change of view: homologous recombination at single-molecule resolution. Nat Rev Genet 19:191–207PubMedPubMedCentral
Zurück zum Zitat Karekar V, Joshi S, Shinde SL (2000) Antimutagenic profile of three antioxidants in the Ames assay and the Drosophila wing spot test. Mutat Res 468:183–194PubMed Karekar V, Joshi S, Shinde SL (2000) Antimutagenic profile of three antioxidants in the Ames assay and the Drosophila wing spot test. Mutat Res 468:183–194PubMed
Zurück zum Zitat Kremer EJ, Pritchard M, Lynch M et al (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711–1714PubMed Kremer EJ, Pritchard M, Lynch M et al (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711–1714PubMed
Zurück zum Zitat Kuzminov A (2019) Half-intercalation stabilizes slipped mispairing and explains genome vulnerability to frameshift mutagenesis by endogenous “Molecular Bookmarks”. Bioessays 41:e1900062PubMedPubMedCentral Kuzminov A (2019) Half-intercalation stabilizes slipped mispairing and explains genome vulnerability to frameshift mutagenesis by endogenous “Molecular Bookmarks”. Bioessays 41:e1900062PubMedPubMedCentral
Zurück zum Zitat Leibeling D, Laspe P, Emmert S (2006) Nucleotide excision repair and cancer. J Mol Hist 37:225–238 Leibeling D, Laspe P, Emmert S (2006) Nucleotide excision repair and cancer. J Mol Hist 37:225–238
Zurück zum Zitat Lewandoski M (2001) Conditional control of gene expression in the mouse. Nat Rev Genet 2:743–755PubMed Lewandoski M (2001) Conditional control of gene expression in the mouse. Nat Rev Genet 2:743–755PubMed
Zurück zum Zitat Li W-H, Yi S, Makova K (2002) Male-driven evolution. Curr Opin Genet Dev 12:650–656PubMed Li W-H, Yi S, Makova K (2002) Male-driven evolution. Curr Opin Genet Dev 12:650–656PubMed
Zurück zum Zitat Liu Z, Wang L, Zhong D (2015) Dynamics and mechanisms of DNA repair by photolyase. Phys Chem Chem Phys 17:11933–11949PubMedPubMedCentral Liu Z, Wang L, Zhong D (2015) Dynamics and mechanisms of DNA repair by photolyase. Phys Chem Chem Phys 17:11933–11949PubMedPubMedCentral
Zurück zum Zitat Lodato MA, Woodworth MB, Lee S et al (2015) Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350:94–98PubMedPubMedCentral Lodato MA, Woodworth MB, Lee S et al (2015) Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350:94–98PubMedPubMedCentral
Zurück zum Zitat Lodato MA, Rodin RE, Bohrson CL et al (2018) Aging and neurodegeneration are associated with increased mutations in single human neurons. Science 359:555–559PubMed Lodato MA, Rodin RE, Bohrson CL et al (2018) Aging and neurodegeneration are associated with increased mutations in single human neurons. Science 359:555–559PubMed
Zurück zum Zitat Loesch D, Hagerman R (2012) Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol 769:78–114PubMedPubMedCentral Loesch D, Hagerman R (2012) Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol 769:78–114PubMedPubMedCentral
Zurück zum Zitat Luch A (2005) Nature and nurture – lessons from chemical carcinogenesis. Nat Rev Cancer 5:113–125PubMed Luch A (2005) Nature and nurture – lessons from chemical carcinogenesis. Nat Rev Cancer 5:113–125PubMed
Zurück zum Zitat Matsuoka Y (2011) Evolution of polyploid Triticum wheats under cultivation: the role of domestication, natural hybridization and allopolyploid speciation in their diversification. Plant Cell Physiol 52:750–764PubMed Matsuoka Y (2011) Evolution of polyploid Triticum wheats under cultivation: the role of domestication, natural hybridization and allopolyploid speciation in their diversification. Plant Cell Physiol 52:750–764PubMed
Zurück zum Zitat Mehrotra S, Goyal V (2012) Agrobacterium-mediated gene transfer in plants and biosafety considerations. Appl Biochem Biotechnol 168:1953–1975PubMed Mehrotra S, Goyal V (2012) Agrobacterium-mediated gene transfer in plants and biosafety considerations. Appl Biochem Biotechnol 168:1953–1975PubMed
Zurück zum Zitat Miyakawa M (2014) Radiation exposure and the risk of pediatric thyroid cancer. Clin Pediatr Endocrinol 23:73–82PubMedPubMedCentral Miyakawa M (2014) Radiation exposure and the risk of pediatric thyroid cancer. Clin Pediatr Endocrinol 23:73–82PubMedPubMedCentral
Zurück zum Zitat Mortelmans K, Zeiger E (2000) The Ames Salmonella/microsome mutagenicity assay. Mutat Res 455:29–60PubMed Mortelmans K, Zeiger E (2000) The Ames Salmonella/microsome mutagenicity assay. Mutat Res 455:29–60PubMed
Zurück zum Zitat Muller HJ (1930) Radiation and genetics. Am Nat 64:220–251 Muller HJ (1930) Radiation and genetics. Am Nat 64:220–251
Zurück zum Zitat Nohmi T, Suzuki T, Masumura K-J (2000) Recent advances in the protocols of transgenic mouse mutation assay. Mutat Res 455:191–215PubMed Nohmi T, Suzuki T, Masumura K-J (2000) Recent advances in the protocols of transgenic mouse mutation assay. Mutat Res 455:191–215PubMed
Zurück zum Zitat Nowakowska B (2017) Clinical interpretation of copy number variants in the human genome. J Appl Genet 58:449–457PubMedPubMedCentral Nowakowska B (2017) Clinical interpretation of copy number variants in the human genome. J Appl Genet 58:449–457PubMedPubMedCentral
Zurück zum Zitat Owens KM, Dohany L, Holland C et al (2018) FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing. Am J Med Genet A 176:1304–1308PubMedPubMedCentral Owens KM, Dohany L, Holland C et al (2018) FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing. Am J Med Genet A 176:1304–1308PubMedPubMedCentral
Zurück zum Zitat Palla VV, Karaolanis G, Katafigiotis I et al (2017) gamma-H2AX: can it be established as a classical cancer prognostic factor? Tumour Biol 39:1010428317695931PubMed Palla VV, Karaolanis G, Katafigiotis I et al (2017) gamma-H2AX: can it be established as a classical cancer prognostic factor? Tumour Biol 39:1010428317695931PubMed
Zurück zum Zitat Palmiter RD, Brinster RL, Hammer RE et al (1982) Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature 300:611–615PubMedPubMedCentral Palmiter RD, Brinster RL, Hammer RE et al (1982) Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature 300:611–615PubMedPubMedCentral
Zurück zum Zitat Pardo-López L, Soberón M, Bravo A (2013) Bacillus thuringiensis insecticidal three-domain Cry toxins: mode of action, insect resistance and consequences for crop protection. FEMS Microbiol Rev 37:3–22PubMed Pardo-López L, Soberón M, Bravo A (2013) Bacillus thuringiensis insecticidal three-domain Cry toxins: mode of action, insect resistance and consequences for crop protection. FEMS Microbiol Rev 37:3–22PubMed
Zurück zum Zitat Peña-Diaz J, Jiricny J (2012) Mammalian mismatch repair: error-free or error-prone? Trends Biochem Sci 37:206–214PubMed Peña-Diaz J, Jiricny J (2012) Mammalian mismatch repair: error-free or error-prone? Trends Biochem Sci 37:206–214PubMed
Zurück zum Zitat Pfeifer GP, You YH, Besaratinia A (2005) Mutations induced by ultraviolet light. Mutat Res 571:19–31PubMed Pfeifer GP, You YH, Besaratinia A (2005) Mutations induced by ultraviolet light. Mutat Res 571:19–31PubMed
Zurück zum Zitat Rahbari R, Wuster A, Lindsay SJ et al (2016) Timing, rates and spectra of human germline mutation. Nat Genet 48:126–133PubMed Rahbari R, Wuster A, Lindsay SJ et al (2016) Timing, rates and spectra of human germline mutation. Nat Genet 48:126–133PubMed
Zurück zum Zitat Robertson AB, Klungland A, Rognes T et al (2009) DNA repair in mammalian cells: base excision repair: the long and short of it. Cell Mol Life Sci 66:981–993PubMed Robertson AB, Klungland A, Rognes T et al (2009) DNA repair in mammalian cells: base excision repair: the long and short of it. Cell Mol Life Sci 66:981–993PubMed
Zurück zum Zitat Rohilla KJ, Gagnon KT (2017) RNA biology of disease-associated microsatellite repeat expansions. acta neuropathol commun 5:63PubMedPubMedCentral Rohilla KJ, Gagnon KT (2017) RNA biology of disease-associated microsatellite repeat expansions. acta neuropathol commun 5:63PubMedPubMedCentral
Zurück zum Zitat de Santis B, Stockhofe N, Wal JM et al (2018) Case studies on genetically modified organisms (GMOs): potential risk scenarios and associated health indicators. Food Chem Toxicol 117:36–65PubMed de Santis B, Stockhofe N, Wal JM et al (2018) Case studies on genetically modified organisms (GMOs): potential risk scenarios and associated health indicators. Food Chem Toxicol 117:36–65PubMed
Zurück zum Zitat Sasaki MS, Tachibana A, Takeda S (2014) Cancer risk at low doses of ionizing radiation: artificial neural networks inference from atomic bomb survivors. J Radiat Res 55:391–406PubMed Sasaki MS, Tachibana A, Takeda S (2014) Cancer risk at low doses of ionizing radiation: artificial neural networks inference from atomic bomb survivors. J Radiat Res 55:391–406PubMed
Zurück zum Zitat Sattler MC, Carvalho CR, Clarindo WR (2016) The polyploidy and its key role in plant breeding. Planta 243:281–296PubMed Sattler MC, Carvalho CR, Clarindo WR (2016) The polyploidy and its key role in plant breeding. Planta 243:281–296PubMed
Zurück zum Zitat Schäfer H (1939) Die Fertilität von Mäusemännchen nach Bestrahlung mit 200 r. Z Mikrosk Anat Forsch 46:121–152 Schäfer H (1939) Die Fertilität von Mäusemännchen nach Bestrahlung mit 200 r. Z Mikrosk Anat Forsch 46:121–152
Zurück zum Zitat Schenkel J (2006) Transgene Tiere, 2. Aufl. Springer, Berlin Schenkel J (2006) Transgene Tiere, 2. Aufl. Springer, Berlin
Zurück zum Zitat Scott KC, Sullivan BA (2014) Neocentromeres: a place for everything and everything in its place. Trends Genet 30:66–74PubMed Scott KC, Sullivan BA (2014) Neocentromeres: a place for everything and everything in its place. Trends Genet 30:66–74PubMed
Zurück zum Zitat Sebat J, Lakshmi B, Troge J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305:525–528PubMed Sebat J, Lakshmi B, Troge J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305:525–528PubMed
Zurück zum Zitat Singer TM, Lambert IB, Williams A et al (2006) Detection of induced male germline mutation: correlations and comparisons between traditional germline mutation assays, transgenic rodent assays and expanded simple tandem repeat instability assays. Mutat Res 598:164–193PubMed Singer TM, Lambert IB, Williams A et al (2006) Detection of induced male germline mutation: correlations and comparisons between traditional germline mutation assays, transgenic rodent assays and expanded simple tandem repeat instability assays. Mutat Res 598:164–193PubMed
Zurück zum Zitat Sniegowski PD, Gerrish PJ, Johnson T et al (2000) The evolution of mutation rates: separating causes from consequences. Bioessays 22:1057–1066PubMed Sniegowski PD, Gerrish PJ, Johnson T et al (2000) The evolution of mutation rates: separating causes from consequences. Bioessays 22:1057–1066PubMed
Zurück zum Zitat Solier S, Pommier Y (2014) The nuclear γ-H2AX apoptotic ring: implications for cancers and autoimmune diseases. Cell Mol Life Sci 71:2289–2297PubMedPubMedCentral Solier S, Pommier Y (2014) The nuclear γ-H2AX apoptotic ring: implications for cancers and autoimmune diseases. Cell Mol Life Sci 71:2289–2297PubMedPubMedCentral
Zurück zum Zitat La Spada AR, Wilson EM, Lubahn DB et al (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular dystrophy. Nature 352:77–79PubMed La Spada AR, Wilson EM, Lubahn DB et al (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular dystrophy. Nature 352:77–79PubMed
Zurück zum Zitat Spradling AC, Rubin GM (1982) Transposition of cloned P elements into Drosophila germ line chromosomes. Science 218:341–347PubMed Spradling AC, Rubin GM (1982) Transposition of cloned P elements into Drosophila germ line chromosomes. Science 218:341–347PubMed
Zurück zum Zitat Stankiewicz P, Lupski JR (2002) Genomic architecture, rearrangements and genomic disorders. Trends Genet 18:74–82PubMed Stankiewicz P, Lupski JR (2002) Genomic architecture, rearrangements and genomic disorders. Trends Genet 18:74–82PubMed
Zurück zum Zitat Suto Y, Hirai M, Akiyama M et al (2013) Biodosimetry of restoration workers for the Tokyo Electric Power Company (TEPCO) Fukushima Daiichi nuclear power station accident. Health Phys 105:366–373PubMed Suto Y, Hirai M, Akiyama M et al (2013) Biodosimetry of restoration workers for the Tokyo Electric Power Company (TEPCO) Fukushima Daiichi nuclear power station accident. Health Phys 105:366–373PubMed
Zurück zum Zitat Suto Y, Akiyama M, Noda T et al (2015) Construction of a cytogenetic dose-response curve for low-dose range gamma-irradiation in human peripheral blood lymphocytes using three-color FISH. Mutat Res Genet Toxicol Environ Mutagen 794:32–38PubMed Suto Y, Akiyama M, Noda T et al (2015) Construction of a cytogenetic dose-response curve for low-dose range gamma-irradiation in human peripheral blood lymphocytes using three-color FISH. Mutat Res Genet Toxicol Environ Mutagen 794:32–38PubMed
Zurück zum Zitat Sutton MD, Smith BT, Godoy VG et al (2000) The SOS response: recent insights into umuDC-dependent mutagenesis and DNA damage tolerance. Annu Rev Genet 34:479–497PubMed Sutton MD, Smith BT, Godoy VG et al (2000) The SOS response: recent insights into umuDC-dependent mutagenesis and DNA damage tolerance. Annu Rev Genet 34:479–497PubMed
Zurück zum Zitat Suzuki K, Saenko V, Yamashita S et al (2019) Radiation-induced thyroid cancers: overview of molecular signatures. Cancers 11:E1290PubMed Suzuki K, Saenko V, Yamashita S et al (2019) Radiation-induced thyroid cancers: overview of molecular signatures. Cancers 11:E1290PubMed
Zurück zum Zitat Tayalé A, Parisod C (2013) Natural pathways to polyploidy in plants and consequences for genome reorganization. Cytogenet Genome Res 140:79–96PubMed Tayalé A, Parisod C (2013) Natural pathways to polyploidy in plants and consequences for genome reorganization. Cytogenet Genome Res 140:79–96PubMed
Zurück zum Zitat Tetreau G (2018) Interaction between insects, toxins, and bacteria: have we been wrong so far? Toxins 10:281PubMedCentral Tetreau G (2018) Interaction between insects, toxins, and bacteria: have we been wrong so far? Toxins 10:281PubMedCentral
Zurück zum Zitat Thoma F (2005) Repair of UV lesions in nucleosomes – intrinsic properties and remodeling. DNA Repair 4:855–869PubMed Thoma F (2005) Repair of UV lesions in nucleosomes – intrinsic properties and remodeling. DNA Repair 4:855–869PubMed
Zurück zum Zitat Thomas KR, Capecchi MR (1987) Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51:503–512PubMed Thomas KR, Capecchi MR (1987) Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51:503–512PubMed
Zurück zum Zitat UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation) Report to the General Assembly (2000) Effects. Sources and Effects of Ionizing Radiation, Bd. 2. United Nations, New York UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation) Report to the General Assembly (2000) Effects. Sources and Effects of Ionizing Radiation, Bd. 2. United Nations, New York
Zurück zum Zitat UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation) Report to the General Assembly (2013) korrigierte Fassung April 2014) Sources, Effects and Risks of Ionizing Radiation. United Nations, New York UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation) Report to the General Assembly (2013) korrigierte Fassung April 2014) Sources, Effects and Risks of Ionizing Radiation. United Nations, New York
Zurück zum Zitat Usdin K, Hayward BE, Kumari D et al (2014) Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the fragile X-related disorders. Front Genet 5:226PubMedPubMedCentral Usdin K, Hayward BE, Kumari D et al (2014) Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the fragile X-related disorders. Front Genet 5:226PubMedPubMedCentral
Zurück zum Zitat Van de Peer Y, Mizrachi E, Marchal K (2017) The evolutionary significance of polyploidy. Nat Rev Genet 18:411–424PubMed Van de Peer Y, Mizrachi E, Marchal K (2017) The evolutionary significance of polyploidy. Nat Rev Genet 18:411–424PubMed
Zurück zum Zitat Verger P (1997) Down syndrome and ionizing radiation. Health Phys 73:882–893PubMed Verger P (1997) Down syndrome and ionizing radiation. Health Phys 73:882–893PubMed
Zurück zum Zitat de Vries H (1901) Die Mutationstheorie Bd. 1. Veit, Leipzig de Vries H (1901) Die Mutationstheorie Bd. 1. Veit, Leipzig
Zurück zum Zitat Warburton PE (2004) Chromosomal dynamics of human neocentromere formation. Chromosome Res 12:617–626PubMed Warburton PE (2004) Chromosomal dynamics of human neocentromere formation. Chromosome Res 12:617–626PubMed
Zurück zum Zitat Warwick SI, Beckie HJ, Hall LM (2009) Gene flow, invasivness, and ecological impact of genetically modified crops. Ann NY Acad Sci 1168:72–79PubMed Warwick SI, Beckie HJ, Hall LM (2009) Gene flow, invasivness, and ecological impact of genetically modified crops. Ann NY Acad Sci 1168:72–79PubMed
Zurück zum Zitat Weide A, Riehl S, Zeidi M et al (2018) A systematic review of wild grass exploitation in relation to emerging cereal cultivation throughout the Epipalaeolithic and aceramic Neolithic of the Fertile Crescent. PLoS ONE 13:e189811PubMedPubMedCentral Weide A, Riehl S, Zeidi M et al (2018) A systematic review of wild grass exploitation in relation to emerging cereal cultivation throughout the Epipalaeolithic and aceramic Neolithic of the Fertile Crescent. PLoS ONE 13:e189811PubMedPubMedCentral
Zurück zum Zitat Wilson DM, Thompson LH (2007) Molecular mechanisms of sister-chromatid exchange. Mutat Res 616:11–23PubMed Wilson DM, Thompson LH (2007) Molecular mechanisms of sister-chromatid exchange. Mutat Res 616:11–23PubMed
Zurück zum Zitat Wolt JD (2017) Safety, security, and policy considerations for plant genome editing. Prog Mol Biol Transl Sci 149:215–241PubMed Wolt JD (2017) Safety, security, and policy considerations for plant genome editing. Prog Mol Biol Transl Sci 149:215–241PubMed
Zurück zum Zitat Yamashita S, Suzuki S, Suzuki S et al (2018) Lessons from Fukushima: latest findings of thyroid cancer after the Fukushima nuclear power plant accident. Thyroid 28:11–22PubMedPubMedCentral Yamashita S, Suzuki S, Suzuki S et al (2018) Lessons from Fukushima: latest findings of thyroid cancer after the Fukushima nuclear power plant accident. Thyroid 28:11–22PubMedPubMedCentral
Zurück zum Zitat Yang F, Teves SS, Kemp CJ et al (2014) Doxorubicin, DNA torsion, and chromatin dynamics. Biochim Biophys Acta 1845:84–89PubMed Yang F, Teves SS, Kemp CJ et al (2014) Doxorubicin, DNA torsion, and chromatin dynamics. Biochim Biophys Acta 1845:84–89PubMed
Zurück zum Zitat Yoshida N, Takahashi Y (2012) Land-surface contamination by radionuclides from the Fukushima Daiichi nuclear power plant accident. Elements 8:201–206 Yoshida N, Takahashi Y (2012) Land-surface contamination by radionuclides from the Fukushima Daiichi nuclear power plant accident. Elements 8:201–206
Zurück zum Zitat Zhu YO, Siegal ML, Hall DW et al (2014) Precise estimates of mutation rate and spectrum in yeast. Proc Natl Acad Sci USA 111:E2310–E2318PubMed Zhu YO, Siegal ML, Hall DW et al (2014) Precise estimates of mutation rate and spectrum in yeast. Proc Natl Acad Sci USA 111:E2310–E2318PubMed
Metadaten
Titel
Veränderungen im Genom: Mutationen
verfasst von
Jochen Graw
Copyright-Jahr
2020
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-662-60909-5_10

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