메뉴 건너뛰기




Volumn 12, Issue 11, 2016, Pages

Multi-nucleotide de novo Mutations in Humans

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ALLELE; ARTICLE; FEMALE; GENE MUTATION; GENETIC RECOMBINATION; GENOME; GENOTYPE; HUMAN; INDEL MUTATION; MALE; MULTI NUCLEOTIDE MUTATION; MUTATION RATE; SINGLE NUCLEOTIDE VARIANT; DNA MUTATIONAL ANALYSIS; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85000659045     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006315     Document Type: Article
Times cited : (97)

References (40)
  • 1
    • 84923112396 scopus 로고    scopus 로고
    • Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
    • .. Nature Publishing Group;;: –
    • Besenbacher S, Liu S, Izarzugaza JMG, Grove J, Belling K, Bork-Jensen J, et al. Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nat Comms. Nature Publishing Group; 2015;6: 5969–.
    • (2015) Nat Comms , vol.6 , pp. 5969
    • Besenbacher, S.1    Liu, S.2    Izarzugaza, J.M.G.3    Grove, J.4    Belling, K.5    Bork-Jensen, J.6
  • 2
    • 84865208871 scopus 로고    scopus 로고
    • Rate of de novo mutations and the importance of father’s age to disease risk
    • 22914163,.. Nature Publishing Group;;: –
    • Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature. Nature Publishing Group; 2012;488: 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    Magnusson, G.6
  • 3
    • 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, Jin X, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012;151: 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    Jin, X.6
  • 4
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • 21666693,..;: –
    • Conrad DF, Keebler JEM, DePristo MA, Lindsay SJ, Zhang Y, Casals F, et al. Variation in genome-wide mutation rates within and between human families. Nature genetics. 2011;43: 712–714. doi: 10.1038/ng.86221666693
    • (2011) Nature genetics , vol.43 , pp. 712-714
    • Conrad, D.F.1    Keebler, J.E.M.2    DePristo, M.A.3    Lindsay, S.J.4    Zhang, Y.5    Casals, F.6
  • 5
    • 84881664021 scopus 로고    scopus 로고
    • Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
    • 23849776,..;: –
    • Jiang Y-H, Yuen RKC, Jin X, Wang M, Chen N, Wu X, et al. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing. The American Journal of Human Genetics. 2013;93: 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.C.2    Jin, X.3    Wang, M.4    Chen, N.5    Wu, X.6
  • 6
    • 84906855270 scopus 로고    scopus 로고
    • Determinants of mutation rate variation in the human germline
    • 25000986,.;: –
    • Ségurel L, Wyman MJ, Przeworski M, Determinants of mutation rate variation in the human germline. Annu Rev Genomics Hum Genet. 2014;15: 47–70. doi: 10.1146/annurev-genom-031714-12574025000986
    • (2014) Annu Rev Genomics Hum Genet , vol.15 , pp. 47-70
    • Ségurel, L.1    Wyman, M.J.2    Przeworski, M.3
  • 8
    • 24344455529 scopus 로고    scopus 로고
    • Why do human diversity levels vary at a megabase scale?
    • 16140990,.;: –
    • Hellmann I, Prüfer K, Ji H, Zody MC, Pääbo S, Ptak SE, Why do human diversity levels vary at a megabase scale?Genome Res. 2005;15: 1222–1231. doi: 10.1101/gr.346110516140990
    • (2005) Genome Res , vol.15 , pp. 1222-1231
    • Hellmann, I.1    Prüfer, K.2    Ji, H.3    Zody, M.C.4    Pääbo, S.5    Ptak, S.E.6
  • 9
    • 33749416027 scopus 로고    scopus 로고
    • The influence of recombination on human genetic diversity
    • 17044736,..;:
    • Spencer CCA, Deloukas P, Hunt S, Mullikin J, Myers S, Silverman B, et al. The influence of recombination on human genetic diversity. PLoS Genet. 2006;2: e148. doi: 10.1371/journal.pgen.002014817044736
    • (2006) PLoS Genet , vol.2 , pp. e148
    • Spencer, C.C.A.1    Deloukas, P.2    Hunt, S.3    Mullikin, J.4    Myers, S.5    Silverman, B.6
  • 10
    • 84857441787 scopus 로고    scopus 로고
    • Direct and indirect consequences of meiotic recombination: implications for genome evolution
    • 22154475,.;: –
    • Webster MT, Hurst LD, Direct and indirect consequences of meiotic recombination: implications for genome evolution. Trends Genet. 2012;28: 101–109. doi: 10.1016/j.tig.2011.11.00222154475
    • (2012) Trends Genet , vol.28 , pp. 101-109
    • Webster, M.T.1    Hurst, L.D.2
  • 11
    • 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, Renkens I, et al. Genome-wide patterns and properties of de novo mutations in humans. Nature genetics. 2015;47: 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    Renkens, I.6
  • 12
    • 77952258116 scopus 로고    scopus 로고
    • Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence?
    • 20071383,.;: –
    • Amos W, Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence?Proc Biol Sci. 2010;277: 1443–1449. doi: 10.1098/rspb.2009.175720071383
    • (2010) Proc Biol Sci , vol.277 , pp. 1443-1449
    • Amos, W.1
  • 16
    • 84865856910 scopus 로고    scopus 로고
    • Revising the human mutation rate: implications for understanding human evolution
    • 22965354,.;: –
    • Scally A, Durbin R, Revising the human mutation rate: implications for understanding human evolution. Nature Reviews Genetics. 2012;13: 745–753. doi: 10.1038/nrg329522965354
    • (2012) Nature Reviews Genetics , vol.13 , pp. 745-753
    • Scally, A.1    Durbin, R.2
  • 17
    • 84907982955 scopus 로고    scopus 로고
    • De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
    • 25284784,..;: –
    • Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, et al. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder. Cell Rep. 2014;9: 16–23. doi: 10.1016/j.celrep.2014.08.06825284784
    • (2014) Cell Rep , vol.9 , pp. 16-23
    • Dong, S.1    Walker, M.F.2    Carriero, N.J.3    DiCola, M.4    Willsey, A.J.5    Ye, A.Y.6
  • 18
    • 84876523427 scopus 로고    scopus 로고
    • The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
    • 23478400,.. Cold Spring Harbor Laboratory Press;;: –
    • Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, et al. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. Cold Spring Harbor Laboratory Press; 2013;23: 749–761. doi: 10.1101/gr.148718.11223478400
    • (2013) Genome Res , vol.23 , pp. 749-761
    • Montgomery, S.B.1    Goode, D.L.2    Kvikstad, E.3    Albers, C.A.4    Zhang, Z.D.5    Mu, X.J.6
  • 19
    • 0034681511 scopus 로고    scopus 로고
    • Evidence for a high frequency of simultaneous double-nucleotide substitutions
    • 10678838,.;: –
    • Averof M, Rokas A, Wolfe KH, Sharp PM, Evidence for a high frequency of simultaneous double-nucleotide substitutions. Science. 2000;287: 1283–1286. 10678838
    • (2000) Science , vol.287 , pp. 1283-1286
    • Averof, M.1    Rokas, A.2    Wolfe, K.H.3    Sharp, P.M.4
  • 20
    • 74249110768 scopus 로고    scopus 로고
    • Human Triallelic Sites: Evidence for a New Mutational Mechanism?
    • 19884308,.;: –
    • Hodgkinson A, Eyre-Walker A, Human Triallelic Sites: Evidence for a New Mutational Mechanism?Genetics. 2010;184: 233–241. doi: 10.1534/genetics.109.11051019884308
    • (2010) Genetics , vol.184 , pp. 233-241
    • Hodgkinson, A.1    Eyre-Walker, A.2
  • 22
    • 79959340504 scopus 로고    scopus 로고
    • Pervasive multinucleotide mutational events in eukaryotes
    • 21636278,.;: –
    • Schrider DR, Hourmozdi JN, Hahn MW, Pervasive multinucleotide mutational events in eukaryotes. Curr Biol. 2011;21: 1051–1054. doi: 10.1016/j.cub.2011.05.01321636278
    • (2011) Curr Biol , vol.21 , pp. 1051-1054
    • Schrider, D.R.1    Hourmozdi, J.N.2    Hahn, M.W.3
  • 23
    • 84893904926 scopus 로고    scopus 로고
    • A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ∼0.4% of the single-nucleotide substitution mutation rate
    • 24375656,.;: –
    • Chen J-M, Cooper DN, Férec C, A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ∼0.4% of the single-nucleotide substitution mutation rate. Hum Mutat. 2014;35: 392–394. doi: 10.1002/humu.2250124375656
    • (2014) Hum Mutat , vol.35 , pp. 392-394
    • Chen, J.-M.1    Cooper, D.N.2    Férec, C.3
  • 24
    • 84907225774 scopus 로고    scopus 로고
    • Error-prone polymerase activity causes multinucleotide mutations in humans
    • Harris K, Nielsen R, Error-prone polymerase activity causes multinucleotide mutations in humans. Genome Res. 2014.
    • (2014) Genome Res
    • Harris, K.1    Nielsen, R.2
  • 25
    • 84868677197 scopus 로고    scopus 로고
    • DNA polymerase zeta generates clustered mutations during bypass of endogenous DNA lesions in Saccharomyces cerevisiae
    • 22965922,.;: –
    • Stone JE, Lujan SA, Kunkel TA, DNA polymerase zeta generates clustered mutations during bypass of endogenous DNA lesions in Saccharomyces cerevisiae. Environ Mol Mutagen. 2012;53: 777–786. doi: 10.1002/em.2172822965922
    • (2012) Environ Mol Mutagen , vol.53 , pp. 777-786
    • Stone, J.E.1    Lujan, S.A.2    Kunkel, T.A.3
  • 26
    • 33748941448 scopus 로고    scopus 로고
    • The fidelity of DNA synthesis by yeast DNA polymerase zeta alone and with accessory proteins
    • 16971464,.. Oxford University Press;;: –
    • Zhong X, Garg P, Stith CM, McElhinny SAN, Kissling GE, Burgers PMJ, et al. The fidelity of DNA synthesis by yeast DNA polymerase zeta alone and with accessory proteins. Nucleic Acids Research. Oxford University Press; 2006;34: 4731–4742. doi: 10.1093/nar/gkl46516971464
    • (2006) Nucleic Acids Research , vol.34 , pp. 4731-4742
    • Zhong, X.1    Garg, P.2    Stith, C.M.3    McElhinny, S.A.N.4    Kissling, G.E.5    Burgers, P.M.J.6
  • 27
    • 84938988277 scopus 로고    scopus 로고
    • AID/APOBEC deaminases and cancer
    • 26097867,.;: –
    • Rebhandl S, Huemer M, Greil R, Geisberger R, AID/APOBEC deaminases and cancer. Oncoscience. 2015;2: 320–333. doi: 10.18632/oncoscience.15526097867
    • (2015) Oncoscience , vol.2 , pp. 320-333
    • Rebhandl, S.1    Huemer, M.2    Greil, R.3    Geisberger, R.4
  • 28
    • 84948692272 scopus 로고    scopus 로고
    • Polymerase ζ Activity Is Linked to Replication Timing in Humans: Evidence from Mutational Signatures
    • 26376651,.;: –
    • Seplyarskiy VB, Bazykin GA, Soldatov RA, Polymerase ζ Activity Is Linked to Replication Timing in Humans: Evidence from Mutational Signatures. Molecular Biology and Evolution. 2015;32: 3158–3172. doi: 10.1093/molbev/msv18426376651
    • (2015) Molecular Biology and Evolution , vol.32 , pp. 3158-3172
    • Seplyarskiy, V.B.1    Bazykin, G.A.2    Soldatov, R.A.3
  • 29
    • 84883432724 scopus 로고    scopus 로고
    • An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers
    • 23852170,.. Nature Publishing Group;;: –
    • Roberts SA, Lawrence MS, Klimczak LJ, Grimm SA, Fargo D, Stojanov P, et al. An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. Nature genetics. Nature Publishing Group; 2013;45: 970–976. doi: 10.1038/ng.270223852170
    • (2013) Nature genetics , vol.45 , pp. 970-976
    • Roberts, S.A.1    Lawrence, M.S.2    Klimczak, L.J.3    Grimm, S.A.4    Fargo, D.5    Stojanov, P.6
  • 30
    • 77649191573 scopus 로고    scopus 로고
    • Genome destabilization by homologous recombination in the germ line
    • 20164840,.;: –
    • Sasaki M, Lange J, Keeney S, Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol. 2010;11: 182–195. doi: 10.1038/nrm284920164840
    • (2010) Nat Rev Mol Cell Biol , vol.11 , pp. 182-195
    • Sasaki, M.1    Lange, J.2    Keeney, S.3
  • 31
    • 50449089222 scopus 로고    scopus 로고
    • Detection of sharing by descent, long-range phasing and haplotype imputation
    • 19165921,..;: –
    • Kong A, Masson G, Frigge ML, Gylfason A, Zusmanovich P, Thorleifsson G, et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nature genetics. 2008;40: 1068–1075. doi: 10.1038/ng.21619165921
    • (2008) Nature genetics , vol.40 , pp. 1068-1075
    • Kong, A.1    Masson, G.2    Frigge, M.L.3    Gylfason, A.4    Zusmanovich, P.5    Thorleifsson, G.6
  • 32
    • 84891373510 scopus 로고    scopus 로고
    • Common and low-frequency variants associated with genome-wide recombination rate
    • 24270358,..;: –
    • Kong A, Thorleifsson G, Frigge ML, Masson G, Gudbjartsson DF, Villemoes R, et al. Common and low-frequency variants associated with genome-wide recombination rate. Nature genetics. 2014;46: 11–16. doi: 10.1038/ng.283324270358
    • (2014) Nature genetics , vol.46 , pp. 11-16
    • Kong, A.1    Thorleifsson, G.2    Frigge, M.L.3    Masson, G.4    Gudbjartsson, D.F.5    Villemoes, R.6
  • 33
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • 22955616,..;: –
    • ENCODE Project ConsortiumBernstein BE, Birney E, Dunham I, Green ED, Gunter C, et al. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489: 57–74. doi: 10.1038/nature1124722955616
    • (2012) Nature , vol.489 , pp. 57-74
    • Bernstein, B.E.1    Birney, E.2    Dunham, I.3    Green, E.D.4    Gunter, C.5
  • 34
    • 84866912512 scopus 로고    scopus 로고
    • A direct characterization of human mutation based on microsatellites
    • 22922873,.. Nature Publishing Group;;: –
    • Sun JX, Helgason A, Masson G, Ebenesersdóttir SS, Li H, Mallick S, et al. A direct characterization of human mutation based on microsatellites. Nature genetics. Nature Publishing Group; 2012;44: 1161–1165. doi: 10.1038/ng.239822922873
    • (2012) Nature genetics , vol.44 , pp. 1161-1165
    • Sun, J.X.1    Helgason, A.2    Masson, G.3    Ebenesersdóttir, S.S.4    Li, H.5    Mallick, S.6
  • 35
    • 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, Reich D, Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes. PLoS Genet. 2015;11: 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    Reich, D.6
  • 36
    • 78650850475 scopus 로고    scopus 로고
    • Genetic history of an archaic hominin group from Denisova Cave in Siberia
    • 21179161,..;: –
    • Reich D, Green RE, Kircher M, Krause J, Patterson N, Durand EY, et al. Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature. 2010;468: 1053–1060. doi: 10.1038/nature0971021179161
    • (2010) Nature , vol.468 , pp. 1053-1060
    • Reich, D.1    Green, R.E.2    Kircher, M.3    Krause, J.4    Patterson, N.5    Durand, E.Y.6
  • 37
    • 77952136530 scopus 로고    scopus 로고
    • A draft sequence of the Neandertal genome
    • Green R, Krause Briggs A, Maricic A draft sequence of the Neandertal genome. Science. 2010;328: 14.
    • (2010) Science , vol.328 , pp. 14
    • Green, R.1    Krause2    Briggs, A.3    Maricic4
  • 38
    • 84911431761 scopus 로고    scopus 로고
    • DNA recombination. Recombination initiation maps of individual human genomes
    • 25395542,.;:
    • Pratto F, Brick K, Khil P, Smagulova F, Petukhova GV, Camerini-Otero RD, DNA recombination. Recombination initiation maps of individual human genomes. Science. 2014;346: 1256442. doi: 10.1126/science.125644225395542
    • (2014) Science , vol.346 , pp. 1256442
    • Pratto, F.1    Brick, K.2    Khil, P.3    Smagulova, F.4    Petukhova, G.V.5    Camerini-Otero, R.D.6
  • 39
    • 0032377357 scopus 로고    scopus 로고
    • Approximate Is Better than “Exact” for Interval Estimation of Binomial Proportions
    • Agresti A, Coull BA, Approximate Is Better than “Exact” for Interval Estimation of Binomial Proportions. The American Statistician. 1998;52: 119.
    • (1998) The American Statistician , vol.52 , pp. 119
    • Agresti, A.1    Coull, B.A.2
  • 40
    • 76349123622 scopus 로고    scopus 로고
    • Sequencing newly replicated DNA reveals widespread plasticity in human replication timing
    • 19966280,..;: –
    • Hansen RS, Thomas S, Sandstrom R, Canfield TK, Thurman RE, Weaver M, et al. Sequencing newly replicated DNA reveals widespread plasticity in human replication timing. Proc Natl Acad Sci USA. 2010;107: 139–144. doi: 10.1073/pnas.091240210719966280
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 139-144
    • Hansen, R.S.1    Thomas, S.2    Sandstrom, R.3    Canfield, T.K.4    Thurman, R.E.5    Weaver, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.