Mutation and human exceptionalism: Our future genetic load

Genetics

Volumn 202, Issue 3, 2016, Pages 869-875

  Lynch, Michael ^a  

^a INDIANA UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT;

ARTICLE; BRAIN; BRAIN FUNCTION; CELL FATE; DELETION MUTANT; EFFECTIVE POPULATION SIZE; GENE SEQUENCE; GENETIC DISORDER; GENETIC LOAD; GENETIC TRAIT; GENOME SIZE; GERMLINE MUTATION; HUMAN; HUMAN GENOME; LONG TERM CARE; MEASUREMENT; MUTATION RATE; NONHUMAN; PERSONALIZED MEDICINE; PRIORITY JOURNAL; PROGNOSIS; SOCIETY; SOMATIC MUTATION; STANDARDIZATION; UNCERTAINTY; WHOLE GENOME SEQUENCING; GENETIC SELECTION; MOLECULAR EVOLUTION; PHENOTYPE; REPRODUCTIVE FITNESS;

EVOLUTION, MOLECULAR; GENETIC FITNESS; GENETIC LOAD; GENOME, HUMAN; GERM-LINE MUTATION; HUMANS; MUTATION RATE; PHENOTYPE; SELECTION, GENETIC;

EID: 84979941565     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.115.180471     Document Type: Article

References (64)

1. Ajie, B. C., S. Estes, M. Lynch, and P. C. Phillips, 2005 Behavioral degradation under mutation accumulation. Genetics 170: 655–660.
2. Albini, A., S. Cavuto, G. Apolone, and D. M. Noonan, 2015 Strategies to prevent “bad luck” in cancer. J. Natl. Cancer Inst. 107: djv213.
3. Andersson, D. I., and D. Hughes, 2014 Microbiological effects of sublethal levels of antibiotics. Nat. Rev. Microbiol. 12: 465–478.
4. Baer, C. F., M. M. Miyamoto, and D. R. Denver, 2007 Mutation rate variation in multicellular eukaryotes: causes and consequences. Nat. Rev. Genet. 8: 619–631.
5. Berdahl, C. T., M. J. Vermeulen, D. B. Larson, and M. J. Schull, 2013 Emergency department computed tomography utilization in the United States and Canada. Ann. Emerg. Med. 62: 486–494.
6. Besenbacher, S., S. Liu, J. M. Izarzugaza, J. Grove, K. Bellinget al., 2015 Novel variation and de novo mutation rates in populationwide de novo assembled Danish trios. Nat. Commun. 6: 5969.
7. Campbell, C. D., J. X. Chong, M. Malig, A. Ko, B. L. Dumontet al., 2012 Estimating the human mutation rate using autozygosity in a founder population. Nat. Genet. 44: 1277–1281.
8. Crabtree, G. R., 2013 Our fragile intellect. Part I. Trends Genet. 29: 1–3.
9. Crow, J. F., 1986 Population consequences of mutagenesis and antimutagenesis. Basic Life Sci. 39: 519–530.
10. Crow, J. F., 1993 How much do we know about spontaneous human mutation rates? Environ. Mol. Mutagen. 21: 122–129.
11. Crow, J. F., 1997 The high spontaneous mutation rate: Is it a health risk? Proc. Natl. Acad. Sci. USA 94: 8380–8386.
12. Crow, J. F., 2000 The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet. 1: 40–47.
13. Crow, J. F., 2006 Age and sex effects on human mutation rates: an old problem with new complexities. J. Radiat. Res. 47(Suppl. B): B75–B82.
14. Dawson, K. J., 1999 The dynamics of infinitesimally rare alleles, applied to the evolution of mutation rates and the expression of deleterious mutations. Theor. Popul. Biol. 55: 1–22.
15. Drake, J. W., B. Charlesworth, D. Charlesworth, and J. F. Crow, 1998 Rates of spontaneous mutation. Genetics 148: 1667– 1686.
16. Drost, J. B., and W. R. Lee, 1995 Biological basis of germline mutation: among Drosophila, mouse, and human. Environ. Mol. Mutagen. 25: 48–64.
17. Dubrova, Y. E., R. I. Bersimbaev, L. B. Djansugurova, M. K. Tankimanova, Z. Z. Mamyrbaeva et al., 2002 Nuclear weapons tests and human germline mutation rate. Science 295: 1037.
18. Erickson, R. P., 2010 Somatic gene mutation and human disease other than cancer: an update. Mutat. Res. 705: 96–106.
19. Erwin, J. A., M. C. Marchetto, and F. H. Gage, 2014 Mobile DNA elements in the generation of diversity and complexity in the brain. Nat. Rev. Neurosci. 15: 497–506.
20. Eyre-Walker, A., and P. D. Keightley, 2007 The distribution of fitness effects of new mutations. Nat. Rev. Genet. 8: 610–618.
21. Ford, E. S., V. L. Roger, S. M. Dunlay, A. S. Go, and W. D. Rosamond, 2014 Challenges of ascertaining national trends in the incidence of coronary heart disease in the United States. J. Am. Heart Assoc. 3: e001097.
22. Francioli, L. C., P. P. Polak, A. Koren, A. Menelaou, S. Chunet al., 2015 Genome-wide patterns and properties of de novo mutations in humans. Nat. Genet. 47: 822–826.
23. Frank, S. A., 2007 Dynamics of Cancer: Incidence, Inheritance, and Evolution. Princeton University Press, Princeton, NJ.
24. Halligan, D. L., and P. D. Keightley, 2009 Spontaneous mutation accumulation studies in evolutionary genetics. Annu. Rev. Ecol. Evol. Syst. 40: 151–172.
25. Hamilton, W. D., 2001 Narrow Roads of Gene Land, Vol. 2. Oxford University Press, Oxford.
26. Harris, K., 2015 Evidence for recent, population-specific evolution of the human mutation rate. Proc. Natl. Acad. Sci. USA 112: 3439–3444.
27. Iossifov, I., D. Levy, J. Allen, K. Ye, M. Ronemus et al., 2015 Low load for disruptive mutations in autism genes and their biased transmission. Proc. Natl. Acad. Sci. USA 112: E5600–E5607.
28. Keightley, P. D., 2012 Rates and fitness consequences of new mutations in humans. Genetics 190: 295–304.
29. Kimura, M., 1967 On the evolutionary adjustment of spontaneous mutation rates. Genet. Res. 9: 23–34.
30. Kloosterman, W. P., L. C Francioli, F. Hormozdiari, T. Marschall, J. Y. Hehir-Kwaet al., 2015 Characteristics of de novo structural changes in the human genome. Genome Res. 25: 792–801.
31. Kocher, K. E., W. J. Meurer, R. Fazel, P. A. Scott, H. M. Krumholz et al., 2011 National trends in use of computed tomography in the emergency department. Ann. Emerg. Med. 58: 452–462.
32. Kohanski, M. A., M. A. DePristo, and J. J. Collins, 2010 Sublethal antibiotic treatment leads to multidrug resistance via radicalinduced mutagenesis. Mol. Cell 37: 311–320.
33. Kong, A., M. L. Frigge, G. Masson, S. Besenbacher, P. Sulemet al., 2012 Rate of de novo mutations and the importance of father’s age to disease risk. Nature 488: 471–475.
34. Lesecque, Y., P. D. Keightley, and A. Eyre-Walker, 2012 A resolution of the mutation load paradox in humans. Genetics 191: 1321–1330.
35. Leuraud, K., D. B. Richardson, and E. Cardis, 2015 Ionising radiation and risk of death from leukaemia and lymphoma in radiation-monitored workers (INWORKS): an international cohort study. Lancet Haematol. 2: e276–e281.
36. Lindblad-Toh, K., M. Garber, O. Zuk, M. F. Lin, B. J. Parkeret al., 2011 A high-resolution map of human evolutionary constraint using 29 mammals. Nature 478: 476–482.
37. Lodato, M. A., M. B. Woodworth, S. Lee, G. D Evrony, B. K. Mehtaet al., 2015 Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350: 94–98.
38. Lynch, M., 2008 The cellular, developmental, and population-genetic determinants of mutation-rate evolution. Genetics 180: 933–943.
39. Lynch, M., 2009 Rate, molecular spectrum, and consequences of spontaneous mutations in man. Proc. Natl. Acad. Sci. USA 107: 961–968.
40. Lynch, M., 2010 Evolution of the mutation rate. Trends Genet. 26: 345–352.
41. Lynch, M., 2011 The lower bound to the evolution of mutation rates. Genome Biol. Evol. 3: 1107–1118.
42. Lynch, M., and J. B. Walsh, 1998 Genetics and Analysis of Quantitative Traits. Sinauer Associates, Sunderland, MA.
43. Lynch, M., J. Blanchard, D. Houle, T. Kibota, S. Schultz et al., 1999 Spontaneous deleterious mutation. Evolution 53: 645– 663.
44. Martincorena, I., A. Roshan, M. Gerstung, P. Ellis, P. V. Looet al., 2015 High burden and pervasive positive selection of somatic mutations in normal human skin. Science 348: 880–886.
45. Muller, H. J., 1950 Our load of mutations. Am. J. Hum. Genet. 2: 111–176.
46. O’Roak, B. J., L. Vives, S. Girirajan, E. Karakoc, N. Krummet al., 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485: 246–250.
47. Rands, C. M., S. Meader, C. P. Ponting, and G. Lunter, 2014 8.2% of the human genome is constrained: variation in rates of turnover across functional element classes in the human lineage. PLoS Genet. 10: e1004525.
48. Reed, F. A., and C. F. Aquadro, 2006 Mutation, selection and the future of human evolution. Trends Genet. 22: 479–484.
49. Richardson, S. R., S. Morell, and G. J. Faulkner, 2014 L1 retrotransposons and somatic mosaicism in the brain. Annu. Rev. Genet. 48: 1–27.
50. Ségurel, L., M. J. Wyman, and M. Przeworski, 2014 Determinants of mutation rate variation in the human germline. Annu. Rev. Genomics Hum. Genet. 15: 47–70.
51. Shabalina, S. A., L. Y. Yampolsky, and A. S. Kondrashov, 1997 Rapid decline of fitness in panmictic populations of Drosophila melanogaster maintained under relaxed natural selection. Proc. Natl. Acad. Sci. USA 94: 13034–13039.
52. Siegel, R., J. Ma, Z. Zou, and A. Jemal, 2014 Cancer statistics, 2014. CA Cancer J. Clin. 64: 9–29.
53. Simmons, M. J., and J. F. Crow, 1977 Mutations affecting fitness in Drosophila populations. Annu. Rev. Genet. 11: 49–78.
54. Sung, W., M. S. Ackerman, S. F. Miller, T. G. Doak, and M. Lynch, 2012 The drift-barrier hypothesis and mutation-rate evolution. Proc. Natl. Acad. Sci. USA 109: 18488–18492.
55. Tomasetti, C., and B. Vogelstein, 2015 Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science 347: 78–81.
56. Tomasetti, C., B. Vogelstein, and G. Parmigiani, 2013 Half or more of the somatic mutations in cancers of self-renewing tissues originate prior to tumor initiation. Proc. Natl. Acad. Sci. USA 110: 1999–2004.
57. Uchimura, A., M. Higuchi, Y. Minakuchi, M. Ohno, A. Toyoda et al., 2015 Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice. Genome Res. 25: 1125–1134.
58. Venn, O., I. Turner, I. Mathieson, N. de Groot, R. Bontropet al., 2014 Strong male bias drives germline mutation in chimpanzees. Science 344: 1272–1275.
59. Weinberg, C. R., and D. Zaykin, 2015 Is bad luck the main cause of cancer? J. Natl. Cancer Inst. 107: djv125.
60. Weinberg, H. S., A. B. Korol, V. M. Kirzhner, A. Avivi, T. Fahimaet al., 2001 Very high mutation rate in offspring of Chernobyl accident liquidators. Proc. Biol. Sci. 268: 1001– 1005.
61. Whitlock, M. C., and A. F. Agrawal, 2009 Purging the genome with sexual selection: reducing mutation load through selection on males. Evolution 63: 569–582.
62. Wilson Sayres, M. A., C. Venditti, M. Pagel, and K. D. Makova, 2011 Do variations in substitution rates and male mutation bias correlate with life-history traits? A study of 32 mammalian genomes. Evolution 65: 2800–2815.
63. Woodley, M. A., 2015 How fragile is our intellect? Estimating losses in general intelligence due to both selection and mutation accumulation. Pers. Individ. Dif. 75: 80–84.
64. Yampolsky, L. Y., F. A. Kondrashov, and A. S. Kondrashov, 2005 Distribution of the strength of selection against amino acid replacements in human proteins. Hum. Mol. Genet. 14: 3191–3201.