메뉴 건너뛰기




Volumn 8, Issue 11, 2007, Pages 857-868

Recent and ongoing selection in the human genome

Author keywords

[No Author keywords available]

Indexed keywords

DEMOGRAPHY; EMPIRICISM; GENE FREQUENCY; GENE FUNCTION; GENE TARGETING; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC RECOMBINATION; GENETIC SELECTION; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; HUMAN GENOME; MOLECULAR EVOLUTION; POPULATION RESEARCH; PRIORITY JOURNAL; REVIEW; STATISTICAL SIGNIFICANCE;

EID: 35348988170     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2187     Document Type: Review
Times cited : (404)

References (105)
  • 1
    • 0036911353 scopus 로고    scopus 로고
    • Interrogating a high-density SNP map for signatures of natural selection
    • Akey, J. M., Zhang, G., Zhang, K., Jin, L. & Shriver, M. D. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 12, 1805-1814 (2002).
    • (2002) Genome Res , vol.12 , pp. 1805-1814
    • Akey, J.M.1    Zhang, G.2    Zhang, K.3    Jin, L.4    Shriver, M.D.5
  • 2
    • 27144491328 scopus 로고    scopus 로고
    • Adaptive evolution of non-coding DNA in Drosophila
    • Andolfatto, P. Adaptive evolution of non-coding DNA in Drosophila. Nature 437, 1149-1152 (2005).
    • (2005) Nature , vol.437 , pp. 1149-1152
    • Andolfatto, P.1
  • 3
    • 27144539145 scopus 로고    scopus 로고
    • Bustamante, C. D. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005). This paper reports a genome-wide scan for selection in humans based on a derivative of the MacDonald-Kreitman test.
    • Bustamante, C. D. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005). This paper reports a genome-wide scan for selection in humans based on a derivative of the MacDonald-Kreitman test.
  • 4
    • 33745121154 scopus 로고    scopus 로고
    • Sabeti, P. C. et al. Positive natural selection in the human lineage. Science 312, 1614-1620 (2006). This review contains a comprehensive list of genes that are thought to be under selection in humans.
    • Sabeti, P. C. et al. Positive natural selection in the human lineage. Science 312, 1614-1620 (2006). This review contains a comprehensive list of genes that are thought to be under selection in humans.
  • 5
    • 34347336584 scopus 로고    scopus 로고
    • Localizing recent adaptive evolution in the human genome
    • Williamson, S. H. et al. Localizing recent adaptive evolution in the human genome. PLoS Genet. 3, e90 (2007).
    • (2007) PLoS Genet , vol.3
    • Williamson, S.H.1
  • 6
    • 30444460720 scopus 로고    scopus 로고
    • Global landscape of recent inferred Darwinian selection for Homo sapiens
    • Wang, E. T., Kodama, G., Baldi, P. & Moyzis, R. K. Global landscape of recent inferred Darwinian selection for Homo sapiens. Proc. Natl Acad. Sci. USA 103, 135-140 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 135-140
    • Wang, E.T.1    Kodama, G.2    Baldi, P.3    Moyzis, R.K.4
  • 9
    • 24644507039 scopus 로고    scopus 로고
    • Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans
    • Evans, P. D. et al. Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 309, 1717-1720 (2005).
    • (2005) Science , vol.309 , pp. 1717-1720
    • Evans, P.D.1
  • 10
    • 0037158715 scopus 로고    scopus 로고
    • Molecular evolution of FOXP2, a gene involved in speech and language
    • Enard, W. et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418, 869-872 (2002).
    • (2002) Nature , vol.418 , pp. 869-872
    • Enard, W.1
  • 11
    • 0037307413 scopus 로고    scopus 로고
    • Signatures of natural selection in the human genome
    • Bamshad, M. & Wooding, S. P. Signatures of natural selection in the human genome. Nature Rev. Genet. 4, 99A-111A (2003).
    • (2003) Nature Rev. Genet , vol.4
    • Bamshad, M.1    Wooding, S.P.2
  • 12
    • 0036107903 scopus 로고    scopus 로고
    • Discovery of regulatory elements by a computational method for phylogenetic footprinting
    • Blanchette, M. & Tompa, M. Discovery of regulatory elements by a computational method for phylogenetic footprinting. Genome Res. 12, 739-748 (2002).
    • (2002) Genome Res , vol.12 , pp. 739-748
    • Blanchette, M.1    Tompa, M.2
  • 13
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034-1050 (2005).
    • (2005) Genome Res , vol.15 , pp. 1034-1050
    • Siepel, A.1
  • 14
    • 0033611501 scopus 로고    scopus 로고
    • High genomic deleterious mutation rates in hominids
    • Eyre-Walker, A. & Keightley, P. D. High genomic deleterious mutation rates in hominids. Nature 397, 344-347 (1999).
    • (1999) Nature , vol.397 , pp. 344-347
    • Eyre-Walker, A.1    Keightley, P.D.2
  • 15
    • 0036900082 scopus 로고    scopus 로고
    • Quantifying the slightly deleterious model of molecular evolution
    • Eyre-Walker, A., Keightley, P. D., Smith, N. G. C. & Gaffney, D. Quantifying the slightly deleterious model of molecular evolution. Mol. Biol. Evol. 19, 2142-2149 (2002).
    • (2002) Mol. Biol. Evol , vol.19 , pp. 2142-2149
    • Eyre-Walker, A.1    Keightley, P.D.2    Smith, N.G.C.3    Gaffney, D.4
  • 16
    • 33745347447 scopus 로고    scopus 로고
    • The distribution of fitness effects of new deleterious amino acid mutations in humans
    • Eyre-Walker, A., Woolfit, M. & Phelps, T. The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 173, 891-900 (2006).
    • (2006) Genetics , vol.173 , pp. 891-900
    • Eyre-Walker, A.1    Woolfit, M.2    Phelps, T.3
  • 17
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • Kryukov, G. V., Pennacchio, L. A. & Sunyaev, S. R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80, 727-739 (2007).
    • (2007) Am. J. Hum. Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 18
    • 0346243805 scopus 로고    scopus 로고
    • Clark, A. G. et al. Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science 302, 1960-1963 (2003). This paper provides a list of genes under positive selection in the human evolutionary lineage based on the ratio of non-synonymous to synonymous mutations.
    • Clark, A. G. et al. Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science 302, 1960-1963 (2003). This paper provides a list of genes under positive selection in the human evolutionary lineage based on the ratio of non-synonymous to synonymous mutations.
  • 19
    • 24344500211 scopus 로고    scopus 로고
    • Consortium, T. C. S. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
    • Consortium, T. C. S. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
  • 20
    • 20444430245 scopus 로고    scopus 로고
    • A scan for positively selected genes in the genomes of humans and chimpanzees
    • Nielsen, R. et al. A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biol. 3, e170 (2005).
    • (2005) PLoS Biol , vol.3
    • Nielsen, R.1
  • 21
    • 0034688140 scopus 로고    scopus 로고
    • Rapid evolution of male reproductive genes in the descent of man
    • Wyckoff, G. J., Wang, W. & Wu, C. I. Rapid evolution of male reproductive genes in the descent of man. Nature 403, 304-309 (2000).
    • (2000) Nature , vol.403 , pp. 304-309
    • Wyckoff, G.J.1    Wang, W.2    Wu, C.I.3
  • 22
    • 0037230001 scopus 로고    scopus 로고
    • Pervasive adaptive evolution in mammalian fertilization proteins
    • Swanson, W. J., Nielsen, R. & Yang, Q. Pervasive adaptive evolution in mammalian fertilization proteins. Mol. Biol. Evol. 20, 18-20 (2003).
    • (2003) Mol. Biol. Evol , vol.20 , pp. 18-20
    • Swanson, W.J.1    Nielsen, R.2    Yang, Q.3
  • 23
    • 0034708031 scopus 로고    scopus 로고
    • Rapid evolution of reproductive barriers driven by sexual conflict
    • Gavrilets, S. Rapid evolution of reproductive barriers driven by sexual conflict. Nature 403, 886-889 (2000).
    • (2000) Nature , vol.403 , pp. 886-889
    • Gavrilets, S.1
  • 24
    • 0024372736 scopus 로고
    • The hitchhiking effect revisited
    • Kaplan, N. L., Hudson, R. R. & Langley, C. H. The hitchhiking effect revisited. Genetics 123, 887-899 (1989).
    • (1989) Genetics , vol.123 , pp. 887-899
    • Kaplan, N.L.1    Hudson, R.R.2    Langley, C.H.3
  • 25
    • 0016220238 scopus 로고    scopus 로고
    • Maynard Smith, J. & Haigh, J. The hitch-hiking effect of a favorable gene. Genet. Res. 23, 23-35 (1974). The original paper describing the effect of a selective sweep in a population.
    • Maynard Smith, J. & Haigh, J. The hitch-hiking effect of a favorable gene. Genet. Res. 23, 23-35 (1974). The original paper describing the effect of a selective sweep in a population.
  • 26
    • 0029036829 scopus 로고
    • The hitchhiking effect on the site frequency spectrum of DNA polymorphisms
    • Braverman, J. M., Hudson, R. R., Kaplan, N. L., Langley, C. H. & Stephan, W. The hitchhiking effect on the site frequency spectrum of DNA polymorphisms. Genetics 140, 783-796 (1995).
    • (1995) Genetics , vol.140 , pp. 783-796
    • Braverman, J.M.1    Hudson, R.R.2    Kaplan, N.L.3    Langley, C.H.4    Stephan, W.5
  • 27
    • 0031673084 scopus 로고    scopus 로고
    • The effect of hitch-hiking on neutral genealogies
    • Barton, N. The effect of hitch-hiking on neutral genealogies. Genet. Res. 72, 123-133 (1998).
    • (1998) Genet. Res , vol.72 , pp. 123-133
    • Barton, N.1
  • 28
    • 33646180401 scopus 로고    scopus 로고
    • The hitchhiking effect on linkage disequilibrium between linked neutral loci
    • Stephan, W., Song, Y. S. & Langley, C. H. The hitchhiking effect on linkage disequilibrium between linked neutral loci. Genetics 172, 2647-2663 (2006).
    • (2006) Genetics , vol.172 , pp. 2647-2663
    • Stephan, W.1    Song, Y.S.2    Langley, C.H.3
  • 29
    • 0014832106 scopus 로고
    • Primary adult lactose intolerance and milking habit - a problem in biologic and cultural interrelations. 2. A culture historical hypothesis
    • Simoons, F. J. Primary adult lactose intolerance and milking habit - a problem in biologic and cultural interrelations. 2. A culture historical hypothesis. Am. J. Dig. Dis. 15, 695-710 (1970).
    • (1970) Am. J. Dig. Dis , vol.15 , pp. 695-710
    • Simoons, F.J.1
  • 30
    • 0015547172 scopus 로고
    • Analytic review: Some current problems of population genetics
    • Cavalli-Sforza, L. Analytic review: some current problems of population genetics. Am. J. Hum. Genet. 25, 82-104 (1973).
    • (1973) Am. J. Hum. Genet , vol.25 , pp. 82-104
    • Cavalli-Sforza, L.1
  • 31
    • 0345257771 scopus 로고    scopus 로고
    • Gene-culture coevolution between cattle milk protein genes and human lactase genes
    • Beja-Pereira, A. et al. Gene-culture coevolution between cattle milk protein genes and human lactase genes. Nature Genet. 35, 311-313 (2003).
    • (2003) Nature Genet , vol.35 , pp. 311-313
    • Beja-Pereira, A.1
  • 32
    • 2442677652 scopus 로고    scopus 로고
    • Genetic signatures of strong recent positive selection at the lactase gene
    • Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1111-1120
    • Bersaglieri, T.1
  • 33
    • 34247246180 scopus 로고    scopus 로고
    • Absence of the lactase-persistence-associated allele in early Neolithic Europeans
    • Burger, J., Kirchner, M., Bramanti, B., Haak, W. & Thomas, M. G. Absence of the lactase-persistence-associated allele in early Neolithic Europeans. Proc. Natl Acad. Sci. USA 104, 3736-3741 (2007).
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 3736-3741
    • Burger, J.1    Kirchner, M.2    Bramanti, B.3    Haak, W.4    Thomas, M.G.5
  • 34
    • 2442677652 scopus 로고    scopus 로고
    • Genetic signatures of strong recent positive selection at the lactase gene
    • Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1111-1120
    • Bersaglieri, T.1
  • 35
    • 33845900450 scopus 로고    scopus 로고
    • Tishkoff, S. A. et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genet. 39, 31-40 (2007). A recent paper that demonstrates positive selection acting independently on different lactase alleles that confer lactose tolerance in adults, in African and European populations.
    • Tishkoff, S. A. et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genet. 39, 31-40 (2007). A recent paper that demonstrates positive selection acting independently on different lactase alleles that confer lactose tolerance in adults, in African and European populations.
  • 36
    • 0035919696 scopus 로고    scopus 로고
    • Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance
    • Tishkoff, S. A. et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 293, 455-462 (2001).
    • (2001) Science , vol.293 , pp. 455-462
    • Tishkoff, S.A.1
  • 37
    • 35348982018 scopus 로고    scopus 로고
    • Signature of selection at the G6PD locus inferred from patterns of nucleotide variation and linkage disequilibrium in Africans
    • Verrelli, B. C., Argyropoulos, G., Destro-Bisol, G., Williams, S. M. & Tishkoff, S. A. Signature of selection at the G6PD locus inferred from patterns of nucleotide variation and linkage disequilibrium in Africans. Am. J. Hum. Genet. 69, 395-395 (2001).
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 395-395
    • Verrelli, B.C.1    Argyropoulos, G.2    Destro-Bisol, G.3    Williams, S.M.4    Tishkoff, S.A.5
  • 38
    • 0036963687 scopus 로고    scopus 로고
    • Nucleotide variability at G6PD and the signature of malarial selection in humans
    • Saunders, M. A., Hammer, M. F. & Nachman, M. W. Nucleotide variability at G6PD and the signature of malarial selection in humans. Genetics 162, 1849-1861 (2002).
    • (2002) Genetics , vol.162 , pp. 1849-1861
    • Saunders, M.A.1    Hammer, M.F.2    Nachman, M.W.3
  • 39
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti, P. C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
    • (2002) Nature , vol.419 , pp. 832-837
    • Sabeti, P.C.1
  • 40
    • 33644981509 scopus 로고    scopus 로고
    • Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in the human genome. PLoS Biol. 4, e72 (2006). This paper provides the result of a genome-wide scan for selective sweeps based on haplotype structure information.
    • Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in the human genome. PLoS Biol. 4, e72 (2006). This paper provides the result of a genome-wide scan for selective sweeps based on haplotype structure information.
  • 41
    • 13944278863 scopus 로고    scopus 로고
    • A common inversion under selection in Europeans
    • Stefansson, H. et al. A common inversion under selection in Europeans. Nature Genet. 37, 129-137 (2005).
    • (2005) Nature Genet , vol.37 , pp. 129-137
    • Stefansson, H.1
  • 42
    • 8844271778 scopus 로고    scopus 로고
    • CYP3A variation and the evolution of salt-sensitivity variants
    • Thompson, E. E. et al. CYP3A variation and the evolution of salt-sensitivity variants. Am. J. Hum. Genet. 75, 1059-1069 (2004).
    • (2004) Am. J. Hum. Genet , vol.75 , pp. 1059-1069
    • Thompson, E.E.1
  • 43
    • 18444412585 scopus 로고    scopus 로고
    • A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity
    • Osier, M. V. et al. A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am. J. Hum. Genet. 1, 84-99 (2002).
    • (2002) Am. J. Hum. Genet , vol.1 , pp. 84-99
    • Osier, M.V.1
  • 44
    • 0041886501 scopus 로고    scopus 로고
    • Natural selection on the olfactory receptor gene family in humans and chimpanzees
    • Gilad, Y., Bustamante, C. D., Lancet, D. & Paabo, S. Natural selection on the olfactory receptor gene family in humans and chimpanzees. Am. J. Hum. Genet. 73, 489-501 (2003).
    • (2003) Am. J. Hum. Genet , vol.73 , pp. 489-501
    • Gilad, Y.1    Bustamante, C.D.2    Lancet, D.3    Paabo, S.4
  • 45
    • 27544482154 scopus 로고    scopus 로고
    • Genomic regions exhibiting positive selection identified from dense genotype data
    • Carlson, C. S. et al. Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res. 15, 1553-1565 (2005).
    • (2005) Genome Res , vol.15 , pp. 1553-1565
    • Carlson, C.S.1
  • 46
    • 0024313579 scopus 로고    scopus 로고
    • Tajima, F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123, 585-595 (1989). This paper describes the most common methods for detecting selection based on population genetic data.
    • Tajima, F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123, 585-595 (1989). This paper describes the most common methods for detecting selection based on population genetic data.
  • 47
    • 0033911640 scopus 로고    scopus 로고
    • Hitchhiking under positive Darwinian selection
    • Fay, J. C. & Wu, C. I. Hitchhiking under positive Darwinian selection. Genetics 155, 1405-1413 (2000).
    • (2000) Genetics , vol.155 , pp. 1405-1413
    • Fay, J.C.1    Wu, C.I.2
  • 48
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds, D. A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005).
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.A.1
  • 49
    • 27544437635 scopus 로고    scopus 로고
    • Genomic scans for selective sweeps using SNP data
    • Nielsen, R. et al. Genomic scans for selective sweeps using SNP data. Genome Res. 15, 1566-1575 (2005).
    • (2005) Genome Res , vol.15 , pp. 1566-1575
    • Nielsen, R.1
  • 50
    • 0037118065 scopus 로고    scopus 로고
    • Selfish drivers
    • Henikoff, S. & Malik, H. S. Selfish drivers. Nature 417, 227-227 (2002).
    • (2002) Nature , vol.417 , pp. 227-227
    • Henikoff, S.1    Malik, H.S.2
  • 51
    • 0031450133 scopus 로고    scopus 로고
    • The effects of local selection, balanced polymorphism and background selection on equilibrium patterns of genetic diversity in subdivided populations
    • Charlesworth, B., Nordborg, M. & Charlesworth, D. The effects of local selection, balanced polymorphism and background selection on equilibrium patterns of genetic diversity in subdivided populations. Genet. Res. 70, 155-174 (1997).
    • (1997) Genet. Res , vol.70 , pp. 155-174
    • Charlesworth, B.1    Nordborg, M.2    Charlesworth, D.3
  • 52
    • 0031825318 scopus 로고    scopus 로고
    • Genetic hitch-hiking in a subdivided population
    • Slatkin, M. & Wiehe, T. Genetic hitch-hiking in a subdivided population. Genet. Res. 71, 155-160 (1998).
    • (1998) Genet. Res , vol.71 , pp. 155-160
    • Slatkin, M.1    Wiehe, T.2
  • 53
    • 0015879546 scopus 로고    scopus 로고
    • Lewontin, R. C. & Krakauer, J. Distribution of gene frequency as a test of theory of selective neutrality of polymorphisms. Genetics 74, 175-195 (1973). The original paper discussing the effect of selection on measures of population subdivision.
    • Lewontin, R. C. & Krakauer, J. Distribution of gene frequency as a test of theory of selective neutrality of polymorphisms. Genetics 74, 175-195 (1973). The original paper discussing the effect of selection on measures of population subdivision.
  • 54
    • 27544501017 scopus 로고    scopus 로고
    • Measures of human population structure show heterogeneity among genomic regions
    • Weir, B. S., Cardon, L. R., Anderson, A. D., Nielsen, D. M. & Hill, W. G. Measures of human population structure show heterogeneity among genomic regions. Genome Res. 15, 1468-1476 (2005).
    • (2005) Genome Res , vol.15 , pp. 1468-1476
    • Weir, B.S.1    Cardon, L.R.2    Anderson, A.D.3    Nielsen, D.M.4    Hill, W.G.5
  • 55
    • 0038586483 scopus 로고    scopus 로고
    • A genome scan to detect candidate regions influenced by local natural selection in human populations
    • Kayser, M., Brauer, S. & Stoneking, M. A genome scan to detect candidate regions influenced by local natural selection in human populations. Mol. Biol. Evol. 20, 893-900 (2003).
    • (2003) Mol. Biol. Evol , vol.20 , pp. 893-900
    • Kayser, M.1    Brauer, S.2    Stoneking, M.3
  • 56
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 57
    • 0029099781 scopus 로고
    • Properties of statistical tests of neutrality for DNA polymorphism data
    • Simonsen, K. L., Churchill, G. A. & Aquadro, C. F. Properties of statistical tests of neutrality for DNA polymorphism data. Genetics 141, 413-429 (1995).
    • (1995) Genetics , vol.141 , pp. 413-429
    • Simonsen, K.L.1    Churchill, G.A.2    Aquadro, C.F.3
  • 58
    • 0033828706 scopus 로고    scopus 로고
    • A genome-wide departure from the standard neutral model in natural populations of Drosophila
    • Andolfatto, P. & Przeworski, M. A genome-wide departure from the standard neutral model in natural populations of Drosophila. Genetics 156, 257-268 (2000).
    • (2000) Genetics , vol.156 , pp. 257-268
    • Andolfatto, P.1    Przeworski, M.2
  • 60
    • 0034809334 scopus 로고    scopus 로고
    • Statistical tests of selective neutrality in the age of genomics
    • Nielsen, R. Statistical tests of selective neutrality in the age of genomics. Heredity 86, 641-647 (2001).
    • (2001) Heredity , vol.86 , pp. 641-647
    • Nielsen, R.1
  • 61
    • 10344221021 scopus 로고    scopus 로고
    • Disentangling the effects of demography and selection in human history
    • Stajich, J. E. & Hahn, M. W. Disentangling the effects of demography and selection in human history. Mol. Biol. Evol. 22, 63-73 (2005).
    • (2005) Mol. Biol. Evol , vol.22 , pp. 63-73
    • Stajich, J.E.1    Hahn, M.W.2
  • 62
    • 0036743513 scopus 로고    scopus 로고
    • Testing models of selection and demography in Drosophila simulans
    • Wall, J. D., Andolfatto, P. & Przeworski, M. Testing models of selection and demography in Drosophila simulans. Genetics 162, 203-216 (2002).
    • (2002) Genetics , vol.162 , pp. 203-216
    • Wall, J.D.1    Andolfatto, P.2    Przeworski, M.3
  • 63
    • 0034086970 scopus 로고    scopus 로고
    • Detecting bottlenecks and selective sweeps from DNA sequence polymorphism
    • Galtier, N., Depaulis, F. & Barton, N. H. Detecting bottlenecks and selective sweeps from DNA sequence polymorphism. Genetics 155, 981-987 (2000).
    • (2000) Genetics , vol.155 , pp. 981-987
    • Galtier, N.1    Depaulis, F.2    Barton, N.H.3
  • 64
    • 23344438911 scopus 로고    scopus 로고
    • Distinguishing between selective sweeps and demography using DNA polymorphism data
    • Jensen, J. D., Kim, Y., DuMont, V. B., Aquadro, C. F. & Bustamante, C. D. Distinguishing between selective sweeps and demography using DNA polymorphism data. Genetics 170, 1401-1410 (2005).
    • (2005) Genetics , vol.170 , pp. 1401-1410
    • Jensen, J.D.1    Kim, Y.2    DuMont, V.B.3    Aquadro, C.F.4    Bustamante, C.D.5
  • 66
    • 33244467305 scopus 로고    scopus 로고
    • The fate of mutations surfing on the wave of a range expansion
    • Klopfstein, S., Currat, M. & Excoffier, L. The fate of mutations surfing on the wave of a range expansion. Mol. Biol. Evol. 23, 482-490 (2006).
    • (2006) Mol. Biol. Evol , vol.23 , pp. 482-490
    • Klopfstein, S.1    Currat, M.2    Excoffier, L.3
  • 67
    • 0042991419 scopus 로고    scopus 로고
    • Correcting for ascertainment biases when analyzing SNP data: Applications to the estimation of linkage disequilibrium
    • Nielsen, R. & Signorovitch, J. Correcting for ascertainment biases when analyzing SNP data: applications to the estimation of linkage disequilibrium. Theor. Popul. Biol. 63, 245-255 (2003).
    • (2003) Theor. Popul. Biol , vol.63 , pp. 245-255
    • Nielsen, R.1    Signorovitch, J.2
  • 68
    • 11244313872 scopus 로고    scopus 로고
    • Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data
    • Nielsen, R., Hubisz, M. J. & Clark, A. G. Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data. Genetics 168, 2373-2382 (2004).
    • (2004) Genetics , vol.168 , pp. 2373-2382
    • Nielsen, R.1    Hubisz, M.J.2    Clark, A.G.3
  • 69
    • 34547994117 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • Kong, A. et al. A high-resolution recombination map of the human genome. Nature Genet. 10, 10 (2002).
    • (2002) Nature Genet , vol.10 , pp. 10
    • Kong, A.1
  • 70
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and hotspots across the human genome
    • Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-324 (2005).
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 71
    • 33744815615 scopus 로고    scopus 로고
    • How reliable are empirical genomic scans for selective sweeps?
    • Teshima, K. M., Coop, G. & Przeworski, M. How reliable are empirical genomic scans for selective sweeps? Genome Res. 16, 702-712 (2006).
    • (2006) Genome Res , vol.16 , pp. 702-712
    • Teshima, K.M.1    Coop, G.2    Przeworski, M.3
  • 72
    • 33644778674 scopus 로고    scopus 로고
    • Directional positive selection on an allele of arbitrary dominance
    • Teshima, K. M. & Przeworski, M. Directional positive selection on an allele of arbitrary dominance. Genetics 172, 713-718 (2006).
    • (2006) Genetics , vol.172 , pp. 713-718
    • Teshima, K.M.1    Przeworski, M.2
  • 73
    • 33644982060 scopus 로고    scopus 로고
    • Being positive about selection
    • MacCallum, C. & Hill, E. Being positive about selection. PLoS Biol. 4, 293-295 (2006).
    • (2006) PLoS Biol , vol.4 , pp. 293-295
    • MacCallum, C.1    Hill, E.2
  • 74
    • 22144496080 scopus 로고    scopus 로고
    • Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene
    • Shu, W. et al. Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc. Natl Acad. Sci. USA 102, 9643-9648 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 9643-9648
    • Shu, W.1
  • 76
    • 0018692402 scopus 로고
    • Spandrels of San-Marco and the Panglossian paradigm - a critique of the adaptationist program
    • Gould, S. J. & Lewontin, R. C. Spandrels of San-Marco and the Panglossian paradigm - a critique of the adaptationist program. Proc. R. Soc. London Series B Biol. Sci. 205, 581-598 (1979).
    • (1979) Proc. R. Soc. London Series B Biol. Sci , vol.205 , pp. 581-598
    • Gould, S.J.1    Lewontin, R.C.2
  • 77
    • 0033910320 scopus 로고    scopus 로고
    • Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid β-glucosidase mutations
    • Diaz, G. A. et al. Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid β-glucosidase mutations. Am. J. Hum. Genet. 66, 1821-1832 (2000).
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1821-1832
    • Diaz, G.A.1
  • 78
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1
  • 80
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Saxena, R. et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316, 1331-1336 (2007).
    • (2007) Science , vol.316 , pp. 1331-1336
    • Saxena, R.1
  • 81
    • 34249828965 scopus 로고    scopus 로고
    • A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    • Steinthorsdottir, V. et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nature Genet. 39, 770-775 (2007).
    • (2007) Nature Genet , vol.39 , pp. 770-775
    • Steinthorsdottir, V.1
  • 82
    • 34249895023 scopus 로고    scopus 로고
    • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    • Zeggini, E. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316, 1336-1341 (2007).
    • (2007) Science , vol.316 , pp. 1336-1341
    • Zeggini, E.1
  • 83
    • 0036842917 scopus 로고    scopus 로고
    • Evidence for balancing selection from nucleotide sequence analyses of human G6PD
    • Verrelli, B. C. et al. Evidence for balancing selection from nucleotide sequence analyses of human G6PD. Am. J. Hum. Genet. 71, 1112-1128 (2002).
    • (2002) Am. J. Hum. Genet , vol.71 , pp. 1112-1128
    • Verrelli, B.C.1
  • 84
    • 0031474610 scopus 로고    scopus 로고
    • Allen, S. J. et al. ?+-thalassemia protects children against disease caused by other infections as well as malaria. Proc. Natl Acad. Sci. USA 94, 14736-14741 (1997).
    • Allen, S. J. et al. ?+-thalassemia protects children against disease caused by other infections as well as malaria. Proc. Natl Acad. Sci. USA 94, 14736-14741 (1997).
  • 85
    • 0029016718 scopus 로고
    • Protection against bronchial-asthma by Cftr δ-f508 mutation - a heterozygote advantage in cysticfibrosis
    • Schroeder, S. A., Gaughan, D. M. & Swift, M. Protection against bronchial-asthma by Cftr δ-f508 mutation - a heterozygote advantage in cysticfibrosis. Nature Med. 1, 703-705 (1995).
    • (1995) Nature Med , vol.1 , pp. 703-705
    • Schroeder, S.A.1    Gaughan, D.M.2    Swift, M.3
  • 86
    • 70349566593 scopus 로고
    • Diabetes mellitus: A 'thrifty' genotype rendered detrimental by 'progress'?
    • Neel, J. V. Diabetes mellitus: a 'thrifty' genotype rendered detrimental by 'progress'? Am. J. Hum. Genet. 14, 353-362 (1962).
    • (1962) Am. J. Hum. Genet , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 87
    • 7444227970 scopus 로고    scopus 로고
    • Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects
    • Thomas, P. D. & Kejariwal, A. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc. Natl Acad. Sci. USA 101, 15398-15403 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 15398-15403
    • Thomas, P.D.1    Kejariwal, A.2
  • 88
    • 33847180200 scopus 로고    scopus 로고
    • Multiple mutations responsible for frequent genetic diseases in isolated populations
    • Zlotogora, J. Multiple mutations responsible for frequent genetic diseases in isolated populations. Eur. J. Hum. Genet. 15, 272-278 (2007).
    • (2007) Eur. J. Hum. Genet , vol.15 , pp. 272-278
    • Zlotogora, J.1
  • 89
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng, P. C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 90
    • 0035869223 scopus 로고    scopus 로고
    • Sunyaev, S. et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 10, 591-597 (2001). This paper describes the most popular bioinformatical method for predicting disease mutations without phenotypic data.
    • Sunyaev, S. et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 10, 591-597 (2001). This paper describes the most popular bioinformatical method for predicting disease mutations without phenotypic data.
  • 91
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti, P. C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
    • (2002) Nature , vol.419 , pp. 832-837
    • Sabeti, P.C.1
  • 92
    • 0036851314 scopus 로고    scopus 로고
    • Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-12q14.1 and paralogous regions on other human chromosomes
    • Fan, Y., Linardopoulou, E., Friedman, C., Williams, E. & Trask, B. J. Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-12q14.1 and paralogous regions on other human chromosomes. Genome Res. 12, 1651-1662 (2002).
    • (2002) Genome Res , vol.12 , pp. 1651-1662
    • Fan, Y.1    Linardopoulou, E.2    Friedman, C.3    Williams, E.4    Trask, B.J.5
  • 93
    • 0036189827 scopus 로고    scopus 로고
    • Detecting a local signature of genetic hitchhiking along a recombining chromosome
    • Kim, Y. & Stephan, W. Detecting a local signature of genetic hitchhiking along a recombining chromosome. Genetics 160, 765-777 (2002).
    • (2002) Genetics , vol.160 , pp. 765-777
    • Kim, Y.1    Stephan, W.2
  • 94
    • 0023339852 scopus 로고    scopus 로고
    • Hudson, R. R., Kreitman, M. & Aguade, M. A test of neutral molecular evolution based on nucleotide data. Genetics 116, 153-159 (1987). The original paper describing the combined use of divergence and diversity data to detect selection.
    • Hudson, R. R., Kreitman, M. & Aguade, M. A test of neutral molecular evolution based on nucleotide data. Genetics 116, 153-159 (1987). The original paper describing the combined use of divergence and diversity data to detect selection.
  • 96
    • 0033865944 scopus 로고    scopus 로고
    • The SPCH1 region on human 7q31: Genomic characterization of the critical interval and localization of translocations associated with speech and language disorder
    • Lai, C. S. et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am. J. Hum. Genet. 67, 357-368 (2000).
    • (2000) Am. J. Hum. Genet , vol.67 , pp. 357-368
    • Lai, C.S.1
  • 97
    • 0035807360 scopus 로고    scopus 로고
    • A forkhead-domain gene is mutated in a severe speech and language disorder
    • Lai, C. S., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F. & Monaco, A. P. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413, 519-523 (2001).
    • (2001) Nature , vol.413 , pp. 519-523
    • Lai, C.S.1    Fisher, S.E.2    Hurst, J.A.3    Vargha-Khadem, F.4    Monaco, A.P.5
  • 98
    • 0036959262 scopus 로고    scopus 로고
    • Accelerated protein evolution and origins of human-specific features: Foxp2 as an example
    • Zhang, J., Webb, D. M. & Podlaha, O. Accelerated protein evolution and origins of human-specific features: Foxp2 as an example. Genetics 162, 1825-1835 (2002).
    • (2002) Genetics , vol.162 , pp. 1825-1835
    • Zhang, J.1    Webb, D.M.2    Podlaha, O.3
  • 99
    • 24644454655 scopus 로고    scopus 로고
    • Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens
    • Mekel-Bobrov, N. et al. Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309, 1720-1722 (2005).
    • (2005) Science , vol.309 , pp. 1720-1722
    • Mekel-Bobrov, N.1
  • 100
    • 33746456056 scopus 로고    scopus 로고
    • Comment on 'Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens' and 'Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans'
    • Currat, M. et al. Comment on 'Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens' and 'Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans'. Science 313, 172 (2006).
    • (2006) Science , vol.313 , pp. 172
    • Currat, M.1
  • 101
    • 34247520904 scopus 로고    scopus 로고
    • Comment on 'Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens'
    • Yu, F. L. et al. Comment on 'Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens'. Science 316, 367 (2007).
    • (2007) Science , vol.316 , pp. 367
    • Yu, F.L.1
  • 102
    • 34247123696 scopus 로고    scopus 로고
    • The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence
    • Mekel-Bobrov, N. et al. The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence. Hum. Mol. Genet. 16, 600-608 (2007).
    • (2007) Hum. Mol. Genet , vol.16 , pp. 600-608
    • Mekel-Bobrov, N.1
  • 103
    • 0033965571 scopus 로고    scopus 로고
    • Estimation of population parameters and recombination rates from single nucleotide polymorphisms
    • Nielsen, R. Estimation of population parameters and recombination rates from single nucleotide polymorphisms. Genetics 154, 931-942 (2000).
    • (2000) Genetics , vol.154 , pp. 931-942
    • Nielsen, R.1
  • 105
    • 0036184745 scopus 로고    scopus 로고
    • Generating samples under a Wright-Fisher neutral model of genetic variation
    • Hudson, R. R. Generating samples under a Wright-Fisher neutral model of genetic variation. Bioinformatics 18, 337-338 (2002).
    • (2002) Bioinformatics , vol.18 , pp. 337-338
    • Hudson, R.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.