메뉴 건너뛰기




Volumn 16, Issue 6, 2015, Pages 333-343

Estimating the mutation load in human genomes

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84929509878     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3931     Document Type: Review
Times cited : (197)

References (80)
  • 1
    • 0001654122 scopus 로고    scopus 로고
    • Development of neutral and nearly neutral theories
    • Ohta, T. & Gillespie, J. Development of neutral and nearly neutral theories. Theor. Popul. Biol. 49, 128-142 (1996).
    • (1996) Theor. Popul. Biol. , vol.49 , pp. 128-142
    • Ohta, T.1    Gillespie, J.2
  • 2
    • 33644956987 scopus 로고
    • The mutation load in small populations
    • Kimura, M., Maruyama, T. & Crow, J. F. The mutation load in small populations. Genetics 48, 1303-1312 (1963).
    • (1963) Genetics , vol.48 , pp. 1303-1312
    • Kimura, M.1    Maruyama, T.2    Crow, J.F.3
  • 3
    • 0014680905 scopus 로고
    • Non-Darwinian evolution
    • King, J. L. & Jukes, T. H. Non-Darwinian evolution. Science 164, 788-798 (1969).
    • (1969) Science , vol.164 , pp. 788-798
    • King, J.L.1    Jukes, T.H.2
  • 4
    • 1642282195 scopus 로고    scopus 로고
    • The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations
    • Marth, G. T., Czabarka, E., Murvai, J. & Sherry, S. T. The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations. Genetics 166, 351-372 (2004).
    • (2004) Genetics , vol.166 , pp. 351-372
    • Marth, G.T.1    Czabarka, E.2    Murvai, J.3    Sherry, S.T.4
  • 5
    • 77956419544 scopus 로고    scopus 로고
    • Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions
    • Laval, G., Patin, E., Barreiro, L. B. & Quintana-Murci, L. Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions. PLoS ONE 5, e10284 (2010).
    • (2010) PLoS ONE , vol.5 , pp. e10284
    • Laval, G.1    Patin, E.2    Barreiro, L.B.3    Quintana-Murci, L.4
  • 6
    • 80053386624 scopus 로고    scopus 로고
    • Bayesian inference of ancient human demography from individual genome sequences
    • Gronau, I., Hubisz, M. J., Gulko, B., Danko, C. G. & Siepel, A. Bayesian inference of ancient human demography from individual genome sequences. Nature Genet. 43, 1031-1034 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 1031-1034
    • Gronau, I.1    Hubisz, M.J.2    Gulko, B.3    Danko, C.G.4    Siepel, A.5
  • 7
    • 84855865075 scopus 로고    scopus 로고
    • An early divergence of Khoe San ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data
    • Veeramah, K. R. et al. An early divergence of Khoe San ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data. Mol. Bio Evol. 29, 617-630 (2012).
    • (2012) Mol. Bio Evol. , vol.29 , pp. 617-630
    • Veeramah, K.R.1
  • 8
    • 0014421064 scopus 로고
    • Evolutionary rate at the molecular level
    • Kimura, M. Evolutionary rate at the molecular level. Nature 217, 624-626 (1968).
    • (1968) Nature , vol.217 , pp. 624-626
    • Kimura, M.1
  • 10
    • 0015722319 scopus 로고
    • Slightly deleterious mutant substitutions in evolution
    • Ohta, T. Slightly deleterious mutant substitutions in evolution. Nature 246, 96-98 (1973).
    • (1973) Nature , vol.246 , pp. 96-98
    • Ohta, T.1
  • 11
    • 0002160422 scopus 로고
    • Genetic loads and the cost of natural selection
    • Crow, J. F. Genetic loads and the cost of natural selection. Math. Top. Popul. Genet. 1, 128-177 (1970).
    • (1970) Math. Top. Popul. Genet. , vol.1 , pp. 128-177
    • Crow, J.F.1
  • 12
    • 84876823246 scopus 로고    scopus 로고
    • Mutation load: The fitness of individuals in populations where deleterious alleles are abundant
    • Agrawal, A. F. & Whitlock, M. C. Mutation load: the fitness of individuals in populations where deleterious alleles are abundant. Annu. Rev. Ecol. Evol. Syst. 43, 115-135 (2012).
    • (2012) Annu. Rev. Ecol. Evol. Syst. , vol.43 , pp. 115-135
    • Agrawal, A.F.1    Whitlock, M.C.2
  • 13
    • 33749702108 scopus 로고
    • The concept of genetic load: A reply
    • Crow, J. F. 2. The concept of genetic load: a reply. Am. J. Hum. Genet. 15, 310-315 (1963).
    • (1963) Am. J. Hum. Genet. , vol.15 , pp. 310-315
    • Crow, J.F.1
  • 14
    • 70350048798 scopus 로고    scopus 로고
    • Fundamental concepts in genetics: The genetics of inbreeding depression
    • Charlesworth, D. & Willis, J. H. Fundamental concepts in genetics: the genetics of inbreeding depression. Nature Rev. Genet. 10, 783-796 (2009).
    • (2009) Nature Rev. Genet. , vol.10 , pp. 783-796
    • Charlesworth, D.1    Willis, J.H.2
  • 15
    • 39749181521 scopus 로고    scopus 로고
    • Worldwide human relationships inferred from genome-wide patterns of variation
    • Li, J. Z. et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319, 1100-1104 (2008).
    • (2008) Science , vol.319 , pp. 1100-1104
    • Li, J.Z.1
  • 17
    • 79951526578 scopus 로고    scopus 로고
    • Inferences about the distribution of dominance drawn from yeast gene knockout data
    • Agrawal, A. F. & Whitlock, M. C. Inferences about the distribution of dominance drawn from yeast gene knockout data. Genetics 187, 553-566 (2011).
    • (2011) Genetics , vol.187 , pp. 553-566
    • Agrawal, A.F.1    Whitlock, M.C.2
  • 18
    • 0015405272 scopus 로고
    • Mutation rate and dominance of genes affecting viability in Drosophila melanogaster
    • Mukai, T., Chigusa, S. I., Mettler, L. E. & Crow, J. F. Mutation rate and dominance of genes affecting viability in Drosophila melanogaster. Genetics 72, 335-355 (1972).
    • (1972) Genetics , vol.72 , pp. 335-355
    • Mukai, T.1    Chigusa, S.I.2    Mettler, L.E.3    Crow, J.F.4
  • 19
    • 0030715326 scopus 로고    scopus 로고
    • The effects of spontaneous mutation on quantitative traits. II. Dominance of mutations with effects on life-history traits
    • Houle, D., Hughes, K. A., Assimacopoulos, S. & Charlesworth, B. The effects of spontaneous mutation on quantitative traits. II. Dominance of mutations with effects on life-history traits. Genet. Res. 70, 27-34 (1997).
    • (1997) Genet. Res. , vol.70 , pp. 27-34
    • Houle, D.1    Hughes, K.A.2    Assimacopoulos, S.3    Charlesworth, B.4
  • 20
    • 81255211332 scopus 로고    scopus 로고
    • Fitness landscapes: An alternative theory for the dominance of mutation
    • Manna, F., Martin, G. & Lenormand, T. Fitness landscapes: an alternative theory for the dominance of mutation. Genetics 189, 923-937 (2011).
    • (2011) Genetics , vol.189 , pp. 923-937
    • Manna, F.1    Martin, G.2    Lenormand, T.3
  • 21
    • 0001386654 scopus 로고
    • An estimate of the mutational damage in man from data on consanguienous marriages
    • Morton, N. E., Crow, J. F. & Muller, H. J. An estimate of the mutational damage in man from data on consanguienous marriages. Proc. Natl Acad. Sci. USA 42, 855-863 (1956).
    • (1956) Proc. Natl Acad. Sci. USA , vol.42 , pp. 855-863
    • Morton, N.E.1    Crow, J.F.2    Muller, H.J.3
  • 22
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502-510 (2001).
    • (2001) Trends Genet. , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 23
    • 76549106642 scopus 로고    scopus 로고
    • Consanguinity, human evolution, and complex diseases
    • Bittles, A. H. & Black, M. L. Consanguinity, human evolution, and complex diseases. Proc. Natl Acad. Sci. USA 107, 1779-1786 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 1779-1786
    • Bittles, A.H.1    Black, M.L.2
  • 24
    • 84880260767 scopus 로고    scopus 로고
    • Long runs of homozygosity are enriched for deleterious variation
    • Szpiech, Z. A. et al. Long runs of homozygosity are enriched for deleterious variation. Am. J. Hum. Genet. 93, 90-102 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 90-102
    • Szpiech, Z.A.1
  • 25
    • 84864581394 scopus 로고    scopus 로고
    • Evidence of inbreeding depression on human height
    • McQuillan, R. et al. Evidence of inbreeding depression on human height. PLoS Genet. 8, e1002655 (2012).
    • (2012) PLoS Genet. , vol.8 , pp. e1002655
    • McQuillan, R.1
  • 26
    • 84905912748 scopus 로고    scopus 로고
    • Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: Implications for the return of incidental results
    • Tabor, H. K. et al. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am. J. Hum. Genet. 95, 183-193 (2014).
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 183-193
    • Tabor, H.K.1
  • 27
    • 84870900036 scopus 로고    scopus 로고
    • Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
    • Xue, Y. et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am. J. Hum. Genet. 91, 1022-1032 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 1022-1032
    • Xue, Y.1
  • 28
    • 78049323331 scopus 로고    scopus 로고
    • Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
    • Li, Y. et al. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nature Genet. 42, 969-972 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 969-972
    • Li, Y.1
  • 29
    • 84904631417 scopus 로고    scopus 로고
    • The low frequency of recessive disease: Insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: An analytical review
    • Erickson, R. P. & Mitchison, N. A. The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review. J. Appl. Genet. 55, 319-327 (2014).
    • (2014) J. Appl. Genet. , vol.55 , pp. 319-327
    • Erickson, R.P.1    Mitchison, N.A.2
  • 30
    • 85018192996 scopus 로고    scopus 로고
    • Population structure at different minor allele frequency levels
    • De la Cruz, O. & Raska, P. Population structure at different minor allele frequency levels. BMC Proc. 8, S55 (2014).
    • (2014) BMC Proc. , vol.8 , pp. S55
    • De La-Cruz, O.1    Raska, P.2
  • 32
    • 84926320923 scopus 로고    scopus 로고
    • Demography and the age of rare variants
    • Mathieson, I. & McVean, G. Demography and the age of rare variants. PLoS Genet. 10, e1004528 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004528
    • Mathieson, I.1    McVean, G.2
  • 34
    • 84877596833 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • - 1000 Genomes Project Consortium et al. An integrated map of genetic variation from 1,092 human genomes. Nature 490, 56-65 (2013).
    • (2013) Nature , vol.490 , pp. 56-65
  • 35
    • 70349507629 scopus 로고    scopus 로고
    • Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa
    • DeGiorgio, M., Jakobsson, M. & Rosenberg, N. A. Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa. Proc. Natl Acad. Sci. USA 106, 16057-16062 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 16057-16062
    • Degiorgio, M.1    Jakobsson, M.2    Rosenberg, N.A.3
  • 36
    • 84863541347 scopus 로고    scopus 로고
    • An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    • Nelson, M. R. et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337, 100-104 (2012).
    • (2012) Science , vol.337 , pp. 100-104
    • Nelson, M.R.1
  • 37
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen, J. A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1
  • 38
    • 77649255315 scopus 로고    scopus 로고
    • Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
    • Goode, D. L. et al. Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res. 20, 301-310 (2010).
    • (2010) Genome Res. , vol.20 , pp. 301-310
    • Goode, D.L.1
  • 39
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur, D. G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012).
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1
  • 40
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard, J. K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 41
    • 84888389414 scopus 로고    scopus 로고
    • Evaluating empirical bounds on complex disease genetic architecture
    • Agarwala, V., Flannick, J., Sunyaev, S., GoT2D Consortium & Altshuler, D. Evaluating empirical bounds on complex disease genetic architecture. Nature Genet. 45, 1418-1427 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 1418-1427
    • Agarwala, V.1    Flannick, J.2    Sunyaev, S.3    Altshuler, D.4
  • 42
    • 84855925920 scopus 로고    scopus 로고
    • Rare and common variants: Twenty arguments
    • Gibson, G. Rare and common variants: twenty arguments. Nature Rev. Genet. 13, 135-145 (2012).
    • (2012) Nature Rev. Genet. , vol.13 , pp. 135-145
    • Gibson, G.1
  • 44
    • 33244467305 scopus 로고    scopus 로고
    • The fate of mutations surfing on the wave of a range expansion
    • Klopfstein, S. The fate of mutations surfing on the wave of a range expansion. Mol. Bio. Evol. 23, 482-490 (2005).
    • (2005) Mol. Bio. Evol. , vol.23 , pp. 482-490
    • Klopfstein, S.1
  • 45
    • 80052825195 scopus 로고    scopus 로고
    • The functional spectrum of low-frequency coding variation
    • Marth, G. T. et al. The functional spectrum of low-frequency coding variation. Genome Biol. 12, R84 (2011).
    • (2011) Genome Biol. , vol.12 , pp. R84
    • Marth, G.T.1
  • 46
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan, A. & Clark, A. G. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336, 740-743 (2012).
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 47
    • 44949129000 scopus 로고    scopus 로고
    • Assessing the evolutionary impact of amino acid mutations in the human genome
    • Boyko, A. R. et al. Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet. 4, e1000083 (2008).
    • (2008) PLoS Genet. , vol.4 , pp. e1000083
    • Boyko, A.R.1
  • 48
    • 39749139577 scopus 로고    scopus 로고
    • Proportionally more deleterious genetic variation in European than in African populations
    • Lohmueller, K. E. et al. Proportionally more deleterious genetic variation in European than in African populations. Nature 451, 994-997 (2008).
    • (2008) Nature , vol.451 , pp. 994-997
    • Lohmueller, K.E.1
  • 49
    • 84895867277 scopus 로고    scopus 로고
    • The deleterious mutation load is insensitive to recent population history
    • Simons, Y. B., Turchin, M. C., Pritchard, J. K. & Sella, G. The deleterious mutation load is insensitive to recent population history. Nature Genet. 46, 220-224 (2014).
    • (2014) Nature Genet. , vol.46 , pp. 220-224
    • Simons, Y.B.1    Turchin, M.C.2    Pritchard, J.K.3    Sella, G.4
  • 50
    • 84884681237 scopus 로고    scopus 로고
    • Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
    • Casals, F. et al. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet. 9, e1003815 (2013).
    • (2013) PLoS Genet. , vol.9 , pp. e1003815
    • Casals, F.1
  • 51
    • 84926169268 scopus 로고    scopus 로고
    • No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
    • Do, R. et al. No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. Nature Genet. 47, 126-131 (2015).
    • (2015) Nature Genet. , vol.47 , pp. 126-131
    • Do, R.1
  • 52
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu, W. et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013).
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1
  • 53
    • 84921818763 scopus 로고    scopus 로고
    • Characteristics of neutral and deleterious protein-coding variation among individuals and populations
    • Fu, W., Gittelman, R. M., Bamshad, M. J. & Akey, J. M. Characteristics of neutral and deleterious protein-coding variation among individuals and populations. Am. J. Hum. Genet. 95, 421-436 (2014).
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 421-436
    • Fu, W.1    Gittelman, R.M.2    Bamshad, M.J.3    Akey, J.M.4
  • 55
    • 84905460411 scopus 로고    scopus 로고
    • Distribution and medical impact of loss-of-function variants in the Finnish founder population
    • Lim, E. T. et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 10, e1004494 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004494
    • Lim, E.T.1
  • 56
    • 0029859306 scopus 로고    scopus 로고
    • Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population
    • Sajantila, A. et al. Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc. Natl Acad. Sci. USA 93, 12035-12039 (1996).
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 12035-12039
    • Sajantila, A.1
  • 57
    • 79961091828 scopus 로고    scopus 로고
    • Demographic history and rare allele sharing among human populations
    • Gravel, S. et al. Demographic history and rare allele sharing among human populations. Proc. Natl Acad. Sci. USA 108, 11983-11988 (2011).
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 11983-11988
    • Gravel, S.1
  • 58
    • 79960914105 scopus 로고    scopus 로고
    • Inference of human population history from individual whole-genome sequences
    • Li, H. & Durbin, R. Inference of human population history from individual whole-genome sequences. Nature 475, 493-496 (2011).
    • (2011) Nature , vol.475 , pp. 493-496
    • Li, H.1    Durbin, R.2
  • 59
    • 84867331947 scopus 로고    scopus 로고
    • A high-coverage genome sequence from an archaic Denisovan individual
    • Meyer, M. et al. A high-coverage genome sequence from an archaic Denisovan individual. Science 338, 222-226 (2012).
    • (2012) Science , vol.338 , pp. 222-226
    • Meyer, M.1
  • 60
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H. & Bustamante, C. D. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet. 5, e1000695 (2009).
    • (2009) PLoS Genet. , vol.5 , pp. e1000695
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 61
    • 79955103752 scopus 로고    scopus 로고
    • Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
    • Henn, B. M. et al. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc. Natl Acad. Sci. 108, 5154-5162 (2011).
    • (2011) Proc. Natl Acad. Sci. , vol.108 , pp. 5154-5162
    • Henn, B.M.1
  • 62
    • 84901608835 scopus 로고    scopus 로고
    • The impact of population demography and selection on the genetic architecture of complex traits
    • Lohmueller, K. E. The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet. 10, e1004379 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004379
    • Lohmueller, K.E.1
  • 63
    • 27644509150 scopus 로고    scopus 로고
    • Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
    • Ramachandran, S. et al. Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc. Natl Acad. Sci. USA 102, 15942-15947 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 15942-15947
    • Ramachandran, S.1
  • 64
    • 84906493593 scopus 로고    scopus 로고
    • Impact of range expansions on current human genomic diversity
    • Sousa, V., Peischl, S. & Excoffier, L. Impact of range expansions on current human genomic diversity. Curr. Opin. Genet. Dev. 29, 22-30 (2014).
    • (2014) Curr. Opin. Genet. Dev. , vol.29 , pp. 22-30
    • Sousa, V.1    Peischl, S.2    Excoffier, L.3
  • 65
    • 82255175508 scopus 로고    scopus 로고
    • Deep human genealogies reveal a selective advantage to be on an expanding wave front
    • Moreau, C. et al. Deep human genealogies reveal a selective advantage to be on an expanding wave front. Science 334, 1148-1150 (2011).
    • (2011) Science , vol.334 , pp. 1148-1150
    • Moreau, C.1
  • 66
    • 84890120078 scopus 로고    scopus 로고
    • On the accumulation of deleterious mutations during range expansions
    • Peischl, S., Dupanloup, I., Kirkpatrick, M. & Excoffier, L. On the accumulation of deleterious mutations during range expansions. Mol. Ecol. 22, 5972-5982 (2013).
    • (2013) Mol. Ecol. , vol.22 , pp. 5972-5982
    • Peischl, S.1    Dupanloup, I.2    Kirkpatrick, M.3    Excoffier, L.4
  • 67
    • 84890061603 scopus 로고    scopus 로고
    • Surfing downhill: When should population range expansion be characterized by reductions in fitness?
    • Flaxman, S. M. Surfing downhill: when should population range expansion be characterized by reductions in fitness? Mol. Ecol. 22, 5963-5965 (2013).
    • (2013) Mol. Ecol. , vol.22 , pp. 5963-5965
    • Flaxman, S.M.1
  • 68
    • 78650037203 scopus 로고    scopus 로고
    • Deep resequencing reveals excess rare recent variants consistent with explosive population growth
    • Coventry, A. et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nature Commun. 1, 131-136 (2010).
    • (2010) Nature Commun. , vol.1 , pp. 131-136
    • Coventry, A.1
  • 69
    • 79955049280 scopus 로고    scopus 로고
    • Rapid, global demographic expansions after the origins of agriculture
    • Gignoux, C. R., Henn, B. M. & Mountain, J. L. Rapid, global demographic expansions after the origins of agriculture. Proc. Natl Acad. Sci. USA 108, 6044-6049 (2011).
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 6044-6049
    • Gignoux, C.R.1    Henn, B.M.2    Mountain, J.L.3
  • 70
    • 84868270993 scopus 로고    scopus 로고
    • MtDNA analysis of global populations support that major population expansions began before Neolithic time
    • Zheng, H.-X., Yan, S., Qin, Z.-D. & Jin, L. MtDNA analysis of global populations support that major population expansions began before Neolithic time. Sci. Rep. 2, 745 (2012).
    • (2012) Sci. Rep. , vol.2 , pp. 745
    • Zheng, H.-X.1    Yan, S.2    Qin, Z.-D.3    Jin, L.4
  • 71
    • 1242321520 scopus 로고    scopus 로고
    • Ice ages and the mitochondrial DNA chronology of human dispersals: A review
    • Forster, P. Ice ages and the mitochondrial DNA chronology of human dispersals: a review. Phil. Trans. R. Soc. Lond. B. 359, 255-264 (2004).
    • (2004) Phil. Trans. R. Soc. Lond. B. , vol.359 , pp. 255-264
    • Forster, P.1
  • 72
    • 84887109646 scopus 로고    scopus 로고
    • Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect
    • Gazave, E., Chang, D., Clark, A. G. & Keinan, A. Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics 195, 969-978 (2013).
    • (2013) Genetics , vol.195 , pp. 969-978
    • Gazave, E.1    Chang, D.2    Clark, A.G.3    Keinan, A.4
  • 73
    • 84874048561 scopus 로고    scopus 로고
    • Modeling recent human evolution in mice by expression of a selected EDAR variant
    • Kamberov, Y. G. et al. Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell 152, 691-702 (2013).
    • (2013) Cell , vol.152 , pp. 691-702
    • Kamberov, Y.G.1
  • 74
    • 79951829399 scopus 로고    scopus 로고
    • Classic selective sweeps were rare in recent human evolution
    • Hernandez, R. D. et al. Classic selective sweeps were rare in recent human evolution. Science 331, 920-924 (2011).
    • (2011) Science , vol.331 , pp. 920-924
    • Hernandez, R.D.1
  • 75
    • 84887030033 scopus 로고    scopus 로고
    • Childhood anemia at high altitude: Risk factors for poor outcomes in severe pneumonia
    • Moschovis, P. P. et al. Childhood anemia at high altitude: risk factors for poor outcomes in severe pneumonia. Pediatrics 132, e1156-e1162 (2013).
    • (2013) Pediatrics , vol.132 , pp. e1156-e1162
    • Moschovis, P.P.1
  • 76
    • 0033709990 scopus 로고    scopus 로고
    • Factors affecting the genetic load in Drosophila: Synergistic epistasis and correlations among fitness components
    • Whitlock, M. C. & Bourguet, D. Factors affecting the genetic load in Drosophila: synergistic epistasis and correlations among fitness components. Evolution 54, 1654-1660 (2000).
    • (2000) Evolution , vol.54 , pp. 1654-1660
    • Whitlock, M.C.1    Bourguet, D.2
  • 77
    • 1642265423 scopus 로고    scopus 로고
    • On the rate and linearity of viability declines in Drosophila mutation-accumulation experiments: Genomic mutation rates and synergistic epistasis revisited
    • Fry, J. D. On the rate and linearity of viability declines in Drosophila mutation-accumulation experiments: genomic mutation rates and synergistic epistasis revisited. Genetics 166, 797-806 (2004).
    • (2004) Genetics , vol.166 , pp. 797-806
    • Fry, J.D.1
  • 78
    • 84856405512 scopus 로고    scopus 로고
    • The mystery of missing heritability: Genetic interactions create phantom heritability
    • Zuk, O., Hechter, E., Sunyaev, S. R. & Lander, E. S. The mystery of missing heritability: genetic interactions create phantom heritability. Proc. Natl Acad. Sci. USA 109, 1193-1198 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 1193-1198
    • Zuk, O.1    Hechter, E.2    Sunyaev, S.R.3    Lander, E.S.4
  • 79
    • 84879684637 scopus 로고    scopus 로고
    • Genome-wide inference of natural selection on human transcription factor binding sites
    • Arbiza, L. et al. Genome-wide inference of natural selection on human transcription factor binding sites. Nature Genet. 45, 723-729 (2013).
    • (2013) Nature Genet. , vol.45 , pp. 723-729
    • Arbiza, L.1
  • 80
    • 84906497659 scopus 로고    scopus 로고
    • The distribution of deleterious genetic variation in human populations
    • Lohmueller, K. E. The distribution of deleterious genetic variation in human populations. Curr. Opin. Genet. Dev. 29, 139-146 (2014).
    • (2014) Curr. Opin. Genet. Dev. , vol.29 , pp. 139-146
    • Lohmueller, K.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.