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Volumn 14, Issue 10, 2016, Pages

Human Germline Mutation and the Erratic Evolutionary Clock

Author keywords

[No Author keywords available]

Indexed keywords

CHRONOLOGY; CLINICAL STUDY; GERM LINE; HUMAN; LANGUAGE; MALE; MUTATION RATE; PEDIGREE; EVOLUTION; GENE CONVERSION; GERMLINE MUTATION; MUTATION;

EID: 84995579243     PISSN: 15449173     EISSN: 15457885     Source Type: Journal    
DOI: 10.1371/journal.pbio.2000744     Document Type: Article
Times cited : (48)

References (105)
  • 2
    • 22944437097 scopus 로고    scopus 로고
    • Molecular clocks: four decades of evolution
    • 16136655, ().: –
    • Kumar S, (2005) Molecular clocks: four decades of evolution. Nat Rev Genet6: 654–662. 16136655
    • (2005) Nat Rev Genet , vol.6 , pp. 654-662
    • Kumar, S.1
  • 3
    • 0037373563 scopus 로고    scopus 로고
    • The modern molecular clock
    • 12610526, ().: –
    • Bromham L, Penny D, (2003) The modern molecular clock. Nat Rev Genet4: 216–224. 12610526
    • (2003) Nat Rev Genet , vol.4 , pp. 216-224
    • Bromham, L.1    Penny, D.2
  • 4
    • 84995623051 scopus 로고
    • Kimura M, (1983) The neutral theory of molecular evolution. Cambridge University Press.
    • (1983)
    • Kimura, M.1
  • 6
    • 0342383237 scopus 로고
    • Effects of linkage on rates of molecular evolution
    • 3413105, ().: –
    • Birky CW, Jr.Walsh JB, (1988) Effects of linkage on rates of molecular evolution. Proc Natl Acad Sci U S A85: 6414–6418. 3413105
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 6414-6418
    • Birky, C.W.1    Walsh, J.B.2
  • 9
    • 0033828761 scopus 로고    scopus 로고
    • Estimate of the mutation rate per nucleotide in humans
    • 10978293, ().: –
    • Nachman MW, Crowell SL, (2000) Estimate of the mutation rate per nucleotide in humans. Genetics156: 297–304. 10978293
    • (2000) Genetics , vol.156 , pp. 297-304
    • Nachman, M.W.1    Crowell, S.L.2
  • 11
    • 0036897666 scopus 로고    scopus 로고
    • Slow molecular clocks in Old World monkeys, apes, and humans
    • 12446810, ().: –
    • Yi S, Ellsworth DL, Li W-H, (2002) Slow molecular clocks in Old World monkeys, apes, and humans. Molecular Biology and Evolution19: 2191–2198. 12446810
    • (2002) Molecular Biology and Evolution , vol.19 , pp. 2191-2198
    • Yi, S.1    Ellsworth, D.L.2    Li, W.-H.3
  • 12
    • 33748884192 scopus 로고    scopus 로고
    • Primate molecular divergence dates
    • 16815047, ().: –
    • Steiper ME, Young NM, (2006) Primate molecular divergence dates. Mol Phylogenet Evol41: 384–394. 16815047
    • (2006) Mol Phylogenet Evol , vol.41 , pp. 384-394
    • Steiper, M.E.1    Young, N.M.2
  • 13
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • 16136131, ().: –
    • The Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature437: 69–87. 16136131
    • (2005) Nature , vol.437 , pp. 69-87
  • 14
    • 84865856910 scopus 로고    scopus 로고
    • Revising the human mutation rate: implications for understanding human evolution
    • 22965354, ().: –
    • Scally A, Durbin R, (2012) Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet13: 745–753. doi: 10.1038/nrg329522965354
    • (2012) Nat Rev Genet , vol.13 , pp. 745-753
    • Scally, A.1    Durbin, R.2
  • 15
    • 84865208871 scopus 로고    scopus 로고
    • Rate of de novo mutations and the importance of father's age to disease risk
    • 22914163,. ().: –
    • Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, et al. (2012) Rate of de novo mutations and the importance of father's age to disease risk. Nature488: 471–475. doi: 10.1038/nature1139622914163
    • (2012) Nature , vol.488 , pp. 471-475
    • Kong, A.1    Frigge, M.L.2    Masson, G.3    Besenbacher, S.4    Sulem, P.5
  • 16
    • 84905572361 scopus 로고    scopus 로고
    • Inferring human population size and separation history from multiple genome sequences
    • 24952747, ().: –
    • Schiffels S, Durbin R, (2014) Inferring human population size and separation history from multiple genome sequences. Nature genetics46: 919–925. doi: 10.1038/ng.301524952747
    • (2014) Nature genetics , vol.46 , pp. 919-925
    • Schiffels, S.1    Durbin, R.2
  • 17
    • 84881159598 scopus 로고    scopus 로고
    • Great ape genetic diversity and population history
    • 23823723,. ().: –
    • Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, et al. (2013) Great ape genetic diversity and population history. Nature499: 471–475. doi: 10.1038/nature1222823823723
    • (2013) Nature , vol.499 , pp. 471-475
    • Prado-Martinez, J.1    Sudmant, P.H.2    Kidd, J.M.3    Li, H.4    Kelley, J.L.5
  • 18
    • 84866856766 scopus 로고    scopus 로고
    • Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution
    • 22891323,. ().: –
    • Langergraber KE, Prüfer K, Rowney C, Boesch C, Crockford C, et al. (2012) Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution. Proc Natl Acad Sci USA109: 15716–15721. 22891323
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 15716-15721
    • Langergraber, K.E.1    Prüfer, K.2    Rowney, C.3    Boesch, C.4    Crockford, C.5
  • 19
    • 53349141217 scopus 로고    scopus 로고
    • Timing primate evolution: lessons from the discordance between molecular and paleontological estimates
    • Steiper ME, Young NM, (2008) Timing primate evolution: lessons from the discordance between molecular and paleontological estimates. Evolutionary Anthropology: Issues, News, and Reviews17: 179–188.
    • (2008) Evolutionary Anthropology: Issues, News, and Reviews , vol.17 , pp. 179-188
    • Steiper, M.E.1    Young, N.M.2
  • 21
    • 84863230553 scopus 로고    scopus 로고
    • Insights into hominid evolution from the gorilla genome sequence
    • 22398555,. ().: –
    • Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, et al. (2012) Insights into hominid evolution from the gorilla genome sequence. Nature483: 169–175. doi: 10.1038/nature1084222398555
    • (2012) Nature , vol.483 , pp. 169-175
    • Scally, A.1    Dutheil, J.Y.2    Hillier, L.W.3    Jordan, G.E.4    Goodhead, I.5
  • 22
    • 0001244028 scopus 로고
    • Evolution of the immunologic species specificity of human serum proteins
    • 13900325, ().: –
    • Goodman M, (1962) Evolution of the immunologic species specificity of human serum proteins. Human Biology34: 104–150. 13900325
    • (1962) Human Biology , vol.34 , pp. 104-150
    • Goodman, M.1
  • 23
    • 0023263979 scopus 로고
    • The molecular clock runs more slowly in man than in apes and monkeys
    • 3102974, ().: –
    • Li W-H, Tanimura M, (1987) The molecular clock runs more slowly in man than in apes and monkeys. Nature326: 93–96. 3102974
    • (1987) Nature , vol.326 , pp. 93-96
    • Li, W.-H.1    Tanimura, M.2
  • 24
    • 0001379254 scopus 로고
    • The role of immunochemical differences in the phyletic development of human behavior
    • 13707050, ().: –
    • Goodman M, (1961) The role of immunochemical differences in the phyletic development of human behavior. Human Biology33: 131–162. 13707050
    • (1961) Human Biology , vol.33 , pp. 131-162
    • Goodman, M.1
  • 25
    • 84906855270 scopus 로고    scopus 로고
    • Determinants of mutation rate variation in the human germline
    • 25000986, ().: –
    • Ségurel L, Wyman M, Przeworski M, (2014) Determinants of mutation rate variation in the human germline. Annual Review of Human Genetics15:47–70. 25000986
    • (2014) Annual Review of Human Genetics , vol.15 , pp. 47-70
    • Ségurel, L.1    Wyman, M.2    Przeworski, M.3
  • 26
    • 84957824670 scopus 로고    scopus 로고
    • Life history effects on the molecular clock of autosomes and sex chromosomes
    • 26811451, ().: –
    • Amster G, Sella G, (2016) Life history effects on the molecular clock of autosomes and sex chromosomes. Proc Natl Acad Sci U S A113: 1588–1593. doi: 10.1073/pnas.151579811326811451
    • (2016) Proc Natl Acad Sci U S A , vol.113 , pp. 1588-1593
    • Amster, G.1    Sella, G.2
  • 27
    • 33749577195 scopus 로고    scopus 로고
    • Age and sex effects on human mutation rates: an old problem with new complexities
    • 17019055, ().: –
    • Crow JF, (2006) Age and sex effects on human mutation rates: an old problem with new complexities. J Radiat Res47Suppl B: B75–82. 17019055
    • (2006) J Radiat Res , vol.47 , pp. B75-82
    • Crow, J.F.1
  • 28
    • 84995671951 scopus 로고    scopus 로고
    • Dixson AF, (2009) Sexual selection and the origins of human mating systems: OUPOxford.
    • (2009)
    • Dixson, A.F.1
  • 29
    • 0032227287 scopus 로고    scopus 로고
    • The comparative demography of primates: with some comments on the evolution of life histories
    • 12295432, ().: –
    • Gage TB, (1998) The comparative demography of primates: with some comments on the evolution of life histories. Annual Review of Anthropology: 197–221. 12295432
    • (1998) Annual Review of Anthropology , pp. 197-221
    • Gage, T.B.1
  • 30
    • 84938870216 scopus 로고    scopus 로고
    • Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice
    • 26129709,. ().: –
    • Uchimura A, Higuchi M, Minakuchi Y, Ohno M, Toyoda A, et al. (2015) Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice. Genome research25: 1125–1134. doi: 10.1101/gr.186148.11426129709
    • (2015) Genome research , vol.25 , pp. 1125-1134
    • Uchimura, A.1    Higuchi, M.2    Minakuchi, Y.3    Ohno, M.4    Toyoda, A.5
  • 32
    • 77955090647 scopus 로고    scopus 로고
    • Evolution of the mutation rate
    • 20594608, ().: –
    • Lynch M, (2010) Evolution of the mutation rate. Trends Genet26: 345–352. doi: 10.1016/j.tig.2010.05.00320594608
    • (2010) Trends Genet , vol.26 , pp. 345-352
    • Lynch, M.1
  • 33
    • 84984940557 scopus 로고    scopus 로고
    • Direct estimate of the rate of germline mutation in a bird
    • 27412854, ().: gr. 204669.204116
    • Smeds L, Qvarnstrom A, Ellegren H, (2016) Direct estimate of the rate of germline mutation in a bird. Genome Research: gr. 204669.204116. 27412854
    • (2016) Genome Research
    • Smeds, L.1    Qvarnstrom, A.2    Ellegren, H.3
  • 34
    • 79960629871 scopus 로고    scopus 로고
    • Time‐dependent rates of molecular evolution
    • 21740474,. ().: –
    • Ho SY, Lanfear R, Bromham L, Phillips MJ, Soubrier J, et al. (2011) Time‐dependent rates of molecular evolution. Molecular ecology20: 3087–3101. doi: 10.1111/j.1365-294X.2011.05178.x21740474
    • (2011) Molecular ecology , vol.20 , pp. 3087-3101
    • Ho, S.Y.1    Lanfear, R.2    Bromham, L.3    Phillips, M.J.4    Soubrier, J.5
  • 35
    • 33947245620 scopus 로고    scopus 로고
    • Dates from the molecular clock: how wrong can we be?
    • 1715740, (): –
    • Pulquerio MJ, Nichols RA, (2007) Dates from the molecular clock: how wrong can we be?Trends in Ecology & Evolution22: 180–184. 1715740
    • (2007) Trends in Ecology & Evolution , vol.22 , pp. 180-184
    • Pulquerio, M.J.1    Nichols, R.A.2
  • 36
    • 84884413307 scopus 로고    scopus 로고
    • Properties and rates of germline mutations in humans
    • 23684843, ().: –
    • Campbell CD, Eichler EE, (2013) Properties and rates of germline mutations in humans. Trends Genet29: 575–584. doi: 10.1016/j.tig.2013.04.00523684843
    • (2013) Trends Genet , vol.29 , pp. 575-584
    • Campbell, C.D.1    Eichler, E.E.2
  • 37
    • 84942244408 scopus 로고    scopus 로고
    • The origins, determinants, and consequences of human mutations
    • 26404824, ().: –
    • Shendure J, Akey JM, (2015) The origins, determinants, and consequences of human mutations. Science349: 1478–1483. doi: 10.1126/science.aaa911926404824
    • (2015) Science , vol.349 , pp. 1478-1483
    • Shendure, J.1    Akey, J.M.2
  • 38
    • 84937191220 scopus 로고    scopus 로고
    • Genome-wide patterns and properties of de novo mutations in humans
    • 25985141,. ().: –
    • Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, et al. (2015) Genome-wide patterns and properties of de novo mutations in humans. Nature genetics47: 822–826. doi: 10.1038/ng.329225985141
    • (2015) Nature genetics , vol.47 , pp. 822-826
    • Francioli, L.C.1    Polak, P.P.2    Koren, A.3    Menelaou, A.4    Chun, S.5
  • 39
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • 20220176,. ().: –
    • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, et al. (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science328: 636–639. doi: 10.1126/science.118680220220176
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3    Huff, C.D.4    Hubley, R.5
  • 40
    • 84902589944 scopus 로고    scopus 로고
    • Strong male bias drives germline mutation in chimpanzees
    • 24926018,. ().: –
    • Venn O, Turner I, Mathieson I, de Groot N, Bontrop R, et al. (2014) Strong male bias drives germline mutation in chimpanzees. Science344: 1272–1275. doi: 10.1126/science.344.6189.127224926018
    • (2014) Science , vol.344 , pp. 1272-1275
    • Venn, O.1    Turner, I.2    Mathieson, I.3    de Groot, N.4    Bontrop, R.5
  • 41
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • 21666693,. ().: –
    • Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, et al. (2011) Variation in genome-wide mutation rates within and between human families. Nat Genet43: 712–714. doi: 10.1038/ng.86221666693
    • (2011) Nat Genet , vol.43 , pp. 712-714
    • Conrad, D.F.1    Keebler, J.E.2    DePristo, M.A.3    Lindsay, S.J.4    Zhang, Y.5
  • 42
    • 84868214089 scopus 로고    scopus 로고
    • Estimating the human mutation rate using autozygosity in a founder population
    • 23001126,. ().: –
    • Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, et al. (2012) Estimating the human mutation rate using autozygosity in a founder population. Nature genetics44: 1277–1281. doi: 10.1038/ng.241823001126
    • (2012) Nature genetics , vol.44 , pp. 1277-1281
    • Campbell, C.D.1    Chong, J.X.2    Malig, M.3    Ko, A.4    Dumont, B.L.5
  • 43
    • 84871595000 scopus 로고    scopus 로고
    • Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
    • 23260136,. ().: –
    • Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, et al. (2012) Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell151: 1431–1442. doi: 10.1016/j.cell.2012.11.01923260136
    • (2012) Cell , vol.151 , pp. 1431-1442
    • Michaelson, J.J.1    Shi, Y.2    Gujral, M.3    Zheng, H.4    Malhotra, D.5
  • 44
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • 23849776,. ().: –
    • Jiang Y-h, Yuen RK, Jin X, Wang M, Chen N, et al. (2013) Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. The American Journal of Human Genetics93: 249–263. doi: 10.1016/j.ajhg.2013.06.01223849776
    • (2013) The American Journal of Human Genetics , vol.93 , pp. 249-263
    • Jiang, Y.-H.1    Yuen, R.K.2    Jin, X.3    Wang, M.4    Chen, N.5
  • 45
    • 84923112396 scopus 로고    scopus 로고
    • Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
    • 25597990
    • Besenbacher S, Liu S, Izarzugaza JM, Grove J, Belling K, et al. (2015) Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nature communications6, 5969. doi: 10.1038/ncomms696925597990
    • (2015) Nature communications , vol.6 , pp. 5969
    • Besenbacher, S.1    Liu, S.2    Izarzugaza, J.M.3    Grove, J.4    Belling, K.5
  • 47
    • 84922628604 scopus 로고    scopus 로고
    • Whole-genome sequencing of quartet families with autism spectrum disorder
    • 25621899,. ().: –
    • Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, et al. (2015) Whole-genome sequencing of quartet families with autism spectrum disorder. Nature medicine21: 185–191. doi: 10.1038/nm.379225621899
    • (2015) Nature medicine , vol.21 , pp. 185-191
    • Yuen, R.K.1    Thiruvahindrapuram, B.2    Merico, D.3    Walker, S.4    Tammimies, K.5
  • 48
    • 84955601029 scopus 로고    scopus 로고
    • New observations on maternal age effect on germline de novo mutations
    • 26781218
    • Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, et al. (2016) New observations on maternal age effect on germline de novo mutations. Nature communications7, 10486. doi: 10.1038/ncomms1048626781218
    • (2016) Nature communications , vol.7 , pp. 10486
    • Wong, W.S.1    Solomon, B.D.2    Bodian, D.L.3    Kothiyal, P.4    Eley, G.5
  • 49
    • 84975297904 scopus 로고    scopus 로고
    • Parent-of-origin-specific signatures of de novo mutations
    • 27322544,. ()., –
    • Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, et al. (2016) Parent-of-origin-specific signatures of de novo mutations. Nature Genetics48, 935–939. doi: 10.1038/ng.359727322544
    • (2016) Nature Genetics , vol.48 , pp. 935-939
    • Goldmann, J.M.1    Wong, W.S.2    Pinelli, M.3    Farrah, T.4    Bodian, D.5
  • 50
    • 84984636568 scopus 로고    scopus 로고
    • The mutation rate in human evolution and demographic inference
    • Scally A, (2016) The mutation rate in human evolution and demographic inference. Current Opinion in Genetics & Development41, 36–43.
    • (2016) Current Opinion in Genetics & Development , vol.41 , pp. 36-43
    • Scally, A.1
  • 52
    • 84995607091 scopus 로고    scopus 로고
    • Hartwig WC, (2002) The primate fossil record: Cambridge University Press.
    • (2002)
    • Hartwig, W.C.1
  • 53
    • 84913585432 scopus 로고    scopus 로고
    • Lineage sorting in apes
    • 25251849, ().: –
    • Mailund T, Munch K, Schierup MH, (2014) Lineage sorting in apes. Annual review of genetics48: 519–535. doi: 10.1146/annurev-genet-120213-09253225251849
    • (2014) Annual review of genetics , vol.48 , pp. 519-535
    • Mailund, T.1    Munch, K.2    Schierup, M.H.3
  • 54
    • 0037277564 scopus 로고    scopus 로고
    • Estimating ancestral population sizes and divergence times
    • 12586724, ().: –
    • Wall JD, (2003) Estimating ancestral population sizes and divergence times. Genetics163: 395–404. 12586724
    • (2003) Genetics , vol.163 , pp. 395-404
    • Wall, J.D.1
  • 55
    • 33745591114 scopus 로고    scopus 로고
    • Genetic evidence for complex speciation of humans and chimpanzees
    • 16710306, ().: –
    • Patterson N, Richter DJ, Gnerre S, Lander ES, Reich D, (2006) Genetic evidence for complex speciation of humans and chimpanzees. Nature441: 1103–1108. 16710306
    • (2006) Nature , vol.441 , pp. 1103-1108
    • Patterson, N.1    Richter, D.J.2    Gnerre, S.3    Lander, E.S.4    Reich, D.5
  • 56
    • 79953755778 scopus 로고    scopus 로고
    • A molecular phylogeny of living primates
    • 21436896,. ().:
    • Perelman P, Johnson WE, Roos C, Seuánez HN, Horvath JE, et al. (2011) A molecular phylogeny of living primates. PLoS Genet7: e1001342. doi: 10.1371/journal.pgen.100134221436896
    • (2011) PLoS Genet , vol.7 , pp. e1001342
    • Perelman, P.1    Johnson, W.E.2    Roos, C.3    Seuánez, H.N.4    Horvath, J.E.5
  • 57
    • 10344241529 scopus 로고    scopus 로고
    • Genomic data support the hominoid slowdown and an Early Oligocene estimate for the hominoid–cercopithecoid divergence
    • 15572456, ().: –
    • Steiper ME, Young NM, Sukarna TY, (2004) Genomic data support the hominoid slowdown and an Early Oligocene estimate for the hominoid–cercopithecoid divergence. Proc Natl Acad Sci USA101: 17021–17026. 15572456
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 17021-17026
    • Steiper, M.E.1    Young, N.M.2    Sukarna, T.Y.3
  • 58
    • 70350236484 scopus 로고    scopus 로고
    • Biased gene conversion and the evolution of mammalian genomic landscapes
    • 19630562, ().: –
    • Duret L, Galtier N, (2009) Biased gene conversion and the evolution of mammalian genomic landscapes. Annual review of genomics and human genetics10: 285–311. doi: 10.1146/annurev-genom-082908-15000119630562
    • (2009) Annual review of genomics and human genetics , vol.10 , pp. 285-311
    • Duret, L.1    Galtier, N.2
  • 59
    • 84984923609 scopus 로고    scopus 로고
    • Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
    • Williams AL, Genovese G, Dyer T, Altemose N, Truax K, et al. (2015) Non-crossover gene conversions show strong GC bias and unexpected clustering in humans. Elife4: e04637.
    • (2015) Elife , vol.4 , pp. e04637
    • Williams, A.L.1    Genovese, G.2    Dyer, T.3    Altemose, N.4    Truax, K.5
  • 60
    • 84913546864 scopus 로고    scopus 로고
    • Toward better understanding of artifacts in variant calling from high-coverage samples
    • 24974202, ().: –
    • Li H, (2014) Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics30: 2843–2851. doi: 10.1093/bioinformatics/btu35624974202
    • (2014) Bioinformatics , vol.30 , pp. 2843-2851
    • Li, H.1
  • 61
    • 79956314887 scopus 로고    scopus 로고
    • Genotype and SNP calling from next-generation sequencing data
    • 21587300, ().: –
    • Nielsen R, Paul JS, Albrechtsen A, Song YS, (2011) Genotype and SNP calling from next-generation sequencing data. Nat Rev Genet12: 443–451. doi: 10.1038/nrg298621587300
    • (2011) Nat Rev Genet , vol.12 , pp. 443-451
    • Nielsen, R.1    Paul, J.S.2    Albrechtsen, A.3    Song, Y.S.4
  • 62
    • 84859102499 scopus 로고    scopus 로고
    • Whole genome sequencing for quantifying germline mutation frequency in humans and model species: Cautious optimism
    • 22178956, ().: –
    • Beal MA, Glenn TC, Somers CM, (2012) Whole genome sequencing for quantifying germline mutation frequency in humans and model species: Cautious optimism. Mutation Research/Reviews in Mutation Research750: 96–106. 22178956
    • (2012) Mutation Research/Reviews in Mutation Research , vol.750 , pp. 96-106
    • Beal, M.A.1    Glenn, T.C.2    Somers, C.M.3
  • 64
    • 0028281589 scopus 로고
    • Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy
    • 8168831,. ().: –
    • Bunyan DJ, Robinson DO, Collins AL, Cockwell AE, Bullman HM, et al. (1994) Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy. Human genetics93: 541–544. 8168831
    • (1994) Human genetics , vol.93 , pp. 541-544
    • Bunyan, D.J.1    Robinson, D.O.2    Collins, A.L.3    Cockwell, A.E.4    Bullman, H.M.5
  • 66
    • 84937525190 scopus 로고    scopus 로고
    • Post-zygotic point mutations are an underrecognized source of de novo genomic variation
    • 26054435,. ().: –
    • Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, et al. (2015) Post-zygotic point mutations are an underrecognized source of de novo genomic variation. The American Journal of Human Genetics97: 67–74. doi: 10.1016/j.ajhg.2015.05.00826054435
    • (2015) The American Journal of Human Genetics , vol.97 , pp. 67-74
    • Acuna-Hidalgo, R.1    Bo, T.2    Kwint, M.P.3    van de Vorst, M.4    Pinelli, M.5
  • 67
    • 84907737648 scopus 로고    scopus 로고
    • Genome sequencing of normal cells reveals developmental lineages and mutational processes
    • 25043003,. ().: –
    • Behjati S, Huch M, van Boxtel R, Karthaus W, Wedge DC, et al. (2014) Genome sequencing of normal cells reveals developmental lineages and mutational processes. Nature513: 422–425. doi: 10.1038/nature1344825043003
    • (2014) Nature , vol.513 , pp. 422-425
    • Behjati, S.1    Huch, M.2    van Boxtel, R.3    Karthaus, W.4    Wedge, D.C.5
  • 68
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JB, (1935) The rate of spontaneous mutation of a human gene. Journal of Genetics31: 317–326.
    • (1935) Journal of Genetics , vol.31 , pp. 317-326
    • Haldane, J.B.1
  • 69
    • 84899077299 scopus 로고    scopus 로고
    • Cellular evidence for selfish spermatogonial selection in aged human testes
    • 24357637, ().: –
    • Maher G, Goriely A, Wilkie A, (2014) Cellular evidence for selfish spermatogonial selection in aged human testes. Andrology2: 304–314. doi: 10.1111/j.2047-2927.2013.00175.x24357637
    • (2014) Andrology , vol.2 , pp. 304-314
    • Maher, G.1    Goriely, A.2    Wilkie, A.3
  • 71
    • 84984914590 scopus 로고    scopus 로고
    • Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers
    • 27070266, ().: –
    • Arnheim N, Calabrese P, (2016) Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers. Annual review of genomics and human genetics17: 219–243. doi: 10.1146/annurev-genom-083115-02265627070266
    • (2016) Annual review of genomics and human genetics , vol.17 , pp. 219-243
    • Arnheim, N.1    Calabrese, P.2
  • 72
    • 0034303523 scopus 로고    scopus 로고
    • The origins, patterns and implications of human spontaneous mutation
    • 11262873, ().: –
    • Crow JF, (2000) The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet1: 40–47. 11262873
    • (2000) Nat Rev Genet , vol.1 , pp. 40-47
    • Crow, J.F.1
  • 73
    • 0029078029 scopus 로고
    • Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human
    • 7789362, ().: –
    • Drost JB, Lee WR, (1995) Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. Environmental and molecular mutagenesis25: 48–64. 7789362
    • (1995) Environmental and molecular mutagenesis , vol.25 , pp. 48-64
    • Drost, J.B.1    Lee, W.R.2
  • 74
    • 84961288369 scopus 로고    scopus 로고
    • Interpreting the Dependence of Mutation Rates on Age and Time
    • 26761240, ().:
    • Gao Z, Wyman MJ, Sella G, Przeworski M, (2016) Interpreting the Dependence of Mutation Rates on Age and Time. PLoS Biol14: e1002355. doi: 10.1371/journal.pbio.100235526761240
    • (2016) PLoS Biol , vol.14 , pp. e1002355
    • Gao, Z.1    Wyman, M.J.2    Sella, G.3    Przeworski, M.4
  • 76
    • 84891102589 scopus 로고    scopus 로고
    • Mutational signatures: the patterns of somatic mutations hidden in cancer genomes
    • 24657537, ().: –
    • Alexandrov LB, Stratton MR, (2014) Mutational signatures: the patterns of somatic mutations hidden in cancer genomes. Curr Opin Genet Dev24: 52–60. doi: 10.1016/j.gde.2013.11.01424657537
    • (2014) Curr Opin Genet Dev , vol.24 , pp. 52-60
    • Alexandrov, L.B.1    Stratton, M.R.2
  • 77
    • 84995591071 scopus 로고    scopus 로고
    • Lodish H, (2008) Molecular cell biology: Macmillan.
    • (2008)
    • Lodish, H.1
  • 78
    • 0033520969 scopus 로고    scopus 로고
    • Quality control by DNA repair
    • 10583946, ().: –
    • Lindahl T, Wood RD, (1999) Quality control by DNA repair. Science286: 1897–1905. 10583946
    • (1999) Science , vol.286 , pp. 1897-1905
    • Lindahl, T.1    Wood, R.D.2
  • 80
    • 84982253941 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • 27535533,. ()., –
    • Lek M, Karczewski K, Minikel E, Samocha K, Banks E, et al. (2015) Analysis of protein-coding genetic variation in 60,706 humans. Nature536, 285–291. 27535533
    • (2015) Nature , vol.536 , pp. 285-291
    • Lek, M.1    Karczewski, K.2    Minikel, E.3    Samocha, K.4    Banks, E.5
  • 81
    • 26044441323 scopus 로고    scopus 로고
    • Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies
    • 15795887, ().: –
    • Fenner JN, (2005) Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies. American journal of physical anthropology128: 415–423. 15795887
    • (2005) American journal of physical anthropology , vol.128 , pp. 415-423
    • Fenner, J.N.1
  • 82
    • 84964344665 scopus 로고    scopus 로고
    • Physical and neurobehavioral determinants of reproductive onset and success
    • 27089180,. ()., –
    • Day FR, Helgason H, Chasman DI, Rose LM, Loh P-R, et al. (2016) Physical and neurobehavioral determinants of reproductive onset and success. Nature genetics48, 617–623. doi: 10.1038/ng.355127089180
    • (2016) Nature genetics , vol.48 , pp. 617-623
    • Day, F.R.1    Helgason, H.2    Chasman, D.I.3    Rose, L.M.4    Loh, P.-R.5
  • 83
    • 0000378875 scopus 로고
    • Evidence for higher rates of nucleotide substitution in rodents than in man
    • 3856856, ().: –
    • Wu C-I, Li W-H, (1985) Evidence for higher rates of nucleotide substitution in rodents than in man. Proc Natl Acad Sci USA82: 1741–1745. 3856856
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 1741-1745
    • Wu, C.-I.1    Li, W.-H.2
  • 84
    • 4644300141 scopus 로고    scopus 로고
    • Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution
    • 15292512, ().: –
    • Hwang DG, Green P, (2004) Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc Natl Acad Sci U S A101: 13994–14001. 15292512
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 13994-14001
    • Hwang, D.G.1    Green, P.2
  • 85
    • 80053452843 scopus 로고    scopus 로고
    • Do variations in substitution rates and male mutation bias correlate with life-history traits? A study of 32 mammalian genomes
    • 21967423, ().: –
    • Wilson Sayres MA, Venditti C, Pagel M, Makova KD, (2011) Do variations in substitution rates and male mutation bias correlate with life-history traits? A study of 32 mammalian genomes. Evolution65: 2800–2815. doi: 10.1111/j.1558-5646.2011.01337.x21967423
    • (2011) Evolution , vol.65 , pp. 2800-2815
    • Wilson Sayres, M.A.1    Venditti, C.2    Pagel, M.3    Makova, K.D.4
  • 86
    • 0000378875 scopus 로고
    • Evidence for higher rates of nucleotide substitution in rodents than in man
    • 3856856, ().: –
    • Wu CI, Li WH, (1985) Evidence for higher rates of nucleotide substitution in rodents than in man. Proc Natl Acad Sci U S A82: 1741–1745. 3856856
    • (1985) Proc Natl Acad Sci U S A , vol.82 , pp. 1741-1745
    • Wu, C.I.1    Li, W.H.2
  • 87
    • 0014671880 scopus 로고
    • Rate of fixation of nucleotide substitutions in evolution
    • 5343515, ()., –
    • Laird CD, McConaughy BL, McCarthy BJ, (1969) Rate of fixation of nucleotide substitutions in evolution. Nature224, 149–1545343515
    • (1969) Nature , vol.224 , pp. 149-154
    • Laird, C.D.1    McConaughy, B.L.2    McCarthy, B.J.3
  • 89
    • 38349192060 scopus 로고    scopus 로고
    • Strong variations of mitochondrial mutation rate across mammals—the longevity hypothesis
    • 17998254, ().: –
    • Nabholz B, Glémin S, Galtier N, (2008) Strong variations of mitochondrial mutation rate across mammals—the longevity hypothesis. Molecular biology and evolution25: 120–130. 17998254
    • (2008) Molecular biology and evolution , vol.25 , pp. 120-130
    • Nabholz, B.1    Glémin, S.2    Galtier, N.3
  • 90
    • 11844288987 scopus 로고    scopus 로고
    • The rate of DNA evolution: effects of body size and temperature on the molecular clock
    • 15618408, ().: –
    • Gillooly JF, Allen AP, West GB, Brown JH, (2005) The rate of DNA evolution: effects of body size and temperature on the molecular clock. Proc Natl Acad Sci USA102: 140–145. 15618408
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 140-145
    • Gillooly, J.F.1    Allen, A.P.2    West, G.B.3    Brown, J.H.4
  • 91
    • 77951466672 scopus 로고    scopus 로고
    • Sperm competition and sperm length influence the rate of mammalian spermatogenesis
    • 19828495, ().: –
    • Ramm SA, Stockley P, (2010) Sperm competition and sperm length influence the rate of mammalian spermatogenesis. Biol Lett6: 219–221. doi: 10.1098/rsbl.2009.063519828495
    • (2010) Biol Lett , vol.6 , pp. 219-221
    • Ramm, S.A.1    Stockley, P.2
  • 92
    • 0022534918 scopus 로고
    • Rates of DNA sequence evolution differ between taxonomic groups
    • 3082006, ().: –
    • Britten RJ, (1986) Rates of DNA sequence evolution differ between taxonomic groups. Science231: 1393–1398. 3082006
    • (1986) Science , vol.231 , pp. 1393-1398
    • Britten, R.J.1
  • 93
    • 84893087006 scopus 로고    scopus 로고
    • The human mutation rate is increasing, even as it slows
    • 24202611, ().: –
    • Thomas GW, Hahn MW, (2014) The human mutation rate is increasing, even as it slows. Molecular biology and evolution31: 253–257. doi: 10.1093/molbev/mst21824202611
    • (2014) Molecular biology and evolution , vol.31 , pp. 253-257
    • Thomas, G.W.1    Hahn, M.W.2
  • 94
    • 84925264691 scopus 로고    scopus 로고
    • Evidence for recent, population-specific evolution of the human mutation rate
    • 25733855, ().: –
    • Harris K, (2015) Evidence for recent, population-specific evolution of the human mutation rate. Proc Natl Acad Sci USA112: 3439–3444. 25733855
    • (2015) Proc Natl Acad Sci USA , vol.112 , pp. 3439-3444
    • Harris, K.1
  • 96
    • 84859950070 scopus 로고    scopus 로고
    • Evidence for elevated mutation rates in low-quality genotypes
    • 22451943, ().: –
    • Sharp NP, Agrawal AF, (2012) Evidence for elevated mutation rates in low-quality genotypes. Proc Natl Acad Sci USA109: 6142–6146. 22451943
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 6142-6146
    • Sharp, N.P.1    Agrawal, A.F.2
  • 97
    • 0015437898 scopus 로고
    • The temperature influence on the spontaneous mutation rate
    • 4616927, ().: –
    • Lindgren D, (1972) The temperature influence on the spontaneous mutation rate. Hereditas70: 165–177. 4616927
    • (1972) Hereditas , vol.70 , pp. 165-177
    • Lindgren, D.1
  • 98
    • 6444233360 scopus 로고    scopus 로고
    • DNA repair efficiency and thermotolerance in Drosophila melanogaster from ‘Evolution Canyon’
    • 15388811, ().: –
    • Lupu A, Pechkovskaya A, Rashkovetsky E, Nevo E, Korol A, (2004) DNA repair efficiency and thermotolerance in Drosophila melanogaster from ‘Evolution Canyon’. Mutagenesis19: 383–390. 15388811
    • (2004) Mutagenesis , vol.19 , pp. 383-390
    • Lupu, A.1    Pechkovskaya, A.2    Rashkovetsky, E.3    Nevo, E.4    Korol, A.5
  • 99
    • 84939839653 scopus 로고    scopus 로고
    • Generation time, life history and the substitution rate of neutral mutations
    • 25428931, ().:
    • Lehtonen J, Lanfear R, (2014) Generation time, life history and the substitution rate of neutral mutations. Biology letters10: 20140801. doi: 10.1098/rsbl.2014.080125428931
    • (2014) Biology letters , vol.10 , pp. 20140801
    • Lehtonen, J.1    Lanfear, R.2
  • 100
    • 84925812822 scopus 로고    scopus 로고
    • The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline
    • 25809527
    • Adewoye AB, Lindsay SJ, Dubrova YE, Hurles ME, (2015) The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline. Nature communications6, 6684. doi: 10.1038/ncomms768425809527
    • (2015) Nature communications , vol.6 , pp. 6684
    • Adewoye, A.B.1    Lindsay, S.J.2    Dubrova, Y.E.3    Hurles, M.E.4
  • 101
    • 84949256743 scopus 로고    scopus 로고
    • Calibrating the human mutation rate via ancestral recombination density in diploid genomes
    • 26562831,. ().:
    • Lipson M, Loh P-R, Sankararaman S, Patterson N, Berger B, et al. (2015) Calibrating the human mutation rate via ancestral recombination density in diploid genomes. PLoS Genet11: e1005550. doi: 10.1371/journal.pgen.100555026562831
    • (2015) PLoS Genet , vol.11 , pp. e1005550
    • Lipson, M.1    Loh, P.-R.2    Sankararaman, S.3    Patterson, N.4    Berger, B.5
  • 102
    • 84952638812 scopus 로고    scopus 로고
    • Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates
    • 26581902,. ().: –
    • Palamara PF, Francioli LC, Wilton PR, Genovese G, Gusev A, et al. (2015) Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. The American Journal of Human Genetics97: 775–789. doi: 10.1016/j.ajhg.2015.10.00626581902
    • (2015) The American Journal of Human Genetics , vol.97 , pp. 775-789
    • Palamara, P.F.1    Francioli, L.C.2    Wilton, P.R.3    Genovese, G.4    Gusev, A.5
  • 103
    • 84914688940 scopus 로고    scopus 로고
    • Genome sequence of a 45,000-year-old modern human from western Siberia
    • 25341783,. ().: –
    • Fu Q, Li H, Moorjani P, Jay F, Slepchenko SM, et al. (2014) Genome sequence of a 45,000-year-old modern human from western Siberia. Nature514: 445–449. doi: 10.1038/nature1381025341783
    • (2014) Nature , vol.514 , pp. 445-449
    • Fu, Q.1    Li, H.2    Moorjani, P.3    Jay, F.4    Slepchenko, S.M.5
  • 104
    • 84966667689 scopus 로고    scopus 로고
    • Inferences from tip‐calibrated phylogenies: a review and a practical guide
    • 26880113, ().: –
    • Rieux A, Balloux F, (2016) Inferences from tip‐calibrated phylogenies: a review and a practical guide. Molecular ecology25: 1911–1924. doi: 10.1111/mec.1358626880113
    • (2016) Molecular ecology , vol.25 , pp. 1911-1924
    • Rieux, A.1    Balloux, F.2
  • 105
    • 84905579746 scopus 로고    scopus 로고
    • Whole-genome sequence variation, population structure and demographic history of the Dutch population
    • 24974849, ().: –
    • Genome of the Netherlands Consortium (2014) Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nature Genetics46: 818–825. doi: 10.1038/ng.302124974849
    • (2014) Nature Genetics , vol.46 , pp. 818-825


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