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Volumn 11, Issue 1, 2010, Pages 17-30

From evolutionary genetics to human immunology: How selection shapes host defence genes

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; DEFENSE MECHANISM; DISEASE PREDISPOSITION; EVOLUTION; GENE INACTIVATION; GENOME; HOST RESISTANCE; HUMAN; IMMUNITY; NONHUMAN; PATHOGENESIS; PHENOTYPE; POPULATION GENETICS; PRIMATE; PRIORITY JOURNAL; REVIEW; SURVIVAL;

EID: 72849122933     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2698     Document Type: Review
Times cited : (410)

References (169)
  • 1
    • 22944461763 scopus 로고    scopus 로고
    • Inborn errors of immunity to infection: The rule rather than the exception
    • Casanova, J. L. & Abel, L. Inborn errors of immunity to infection: the rule rather than the exception. J. Exp. Med. 202, 197-201 (2005)
    • (2005) J. Exp. Med. , vol.202 , pp. 197-201
    • Casanova, J.L.1    Abel, L.2
  • 2
    • 0002448869 scopus 로고
    • Disease and evolution
    • Haldane, J. B. S. Disease and evolution. Ric. Sci. 19 (Suppl. A), 68-76 (1949).
    • (1949) Ric. Sci , vol.19 , Issue.SUPPL. A , pp. 68-76
    • Haldane, J.B.S.1
  • 3
    • 27144540463 scopus 로고    scopus 로고
    • Are innate immune signaling pathways in plants and animals conserved?
    • Ausubel, F. M. Are innate immune signaling pathways in plants and animals conserved? Nature Immunol. 6, 973-979 (2005).
    • (2005) Nature Immunol , vol.6 , pp. 973-979
    • Ausubel, F.M.1
  • 4
    • 32944468017 scopus 로고    scopus 로고
    • The evolution of adaptive immune systems
    • Cooper, M. D. & Alder, M. N. The evolution of adaptive immune systems. Cell 124, 815-822 (2006).
    • (2006) Cell , vol.124 , pp. 815-822
    • Cooper, M.D.1    Alder, M.N.2
  • 5
    • 7644232415 scopus 로고    scopus 로고
    • Evolution of innate and adaptive immunity: Can we draw a line?
    • Flajnik, M. F. & Du Pasquier, L. Evolution of innate and adaptive immunity: can we draw a line? Trends Immunol. 25, 640-644 (2004).
    • (2004) Trends Immunol , vol.25 , pp. 640-644
    • Flajnik, M.F.1    Du Pasquier, L.2
  • 6
    • 0035321067 scopus 로고    scopus 로고
    • The evolution and genetics of innate immunity
    • Kimbrell, D. A. & Beutler, B. The evolution and genetics of innate immunity. Nature Rev. Genet. 2, 256-267 (2001).
    • (2001) Nature Rev. Genet , vol.2 , pp. 256-267
    • Kimbrell, D.A.1    Beutler, B.2
  • 9
    • 32944464648 scopus 로고    scopus 로고
    • Pathogen recognition and innate immunity
    • Akira, S., Uematsu, S. & Takeuchi, O. Pathogen recognition and innate immunity. Cell 124, 783-801 (2006).
    • (2006) Cell , vol.124 , pp. 783-801
    • Akira, S.1    Uematsu, S.2    Takeuchi, O.3
  • 10
    • 35349016235 scopus 로고    scopus 로고
    • Recognition of microorganisms and activation of the immune response
    • Medzhitov, R. Recognition of microorganisms and activation of the immune response. Nature 449, 819-826 (2007). An integrated view of the innate and adaptive components of the immune system, how they work and interact, and their role in host defence.
    • (2007) Nature , vol.449 , pp. 819-826
    • Medzhitov, R.1
  • 11
    • 77049164783 scopus 로고
    • Protection afforded by sickle-cell trait against subtertian malareal infection
    • Allison, A. C. Protection afforded by sickle-cell trait against subtertian malareal infection. BMJ 1, 290-294 (1954). The seminal paper that showed that 'sickle-cell' heterozygotes have increased protection against malaria.
    • (1954) BMJ , vol.1 , pp. 290-294
    • Allison, A.C.1
  • 13
    • 33745121154 scopus 로고    scopus 로고
    • Positive natural selection in the human lineage
    • Sabeti, P. C. et al. Positive natural selection in the human lineage. Science 312, 1614-1620 (2006).
    • (2006) Science , vol.312 , pp. 1614-1620
    • Sabeti, P.C.1
  • 14
    • 65149103048 scopus 로고    scopus 로고
    • Constructing genomic maps of positive selection in humans: Where do we go from here?
    • Akey, J. M. Constructing genomic maps of positive selection in humans: where do we go from here? Genome Res. 19, 711-722 (2009). References 12-14 are excellent reviews on how recent positive selection has targeted the human genome. They discuss the major findings of genome-wide scans for selection and their strengths and weaknesses.
    • (2009) Genome Res , vol.19 , pp. 711-722
    • Akey, J.M.1
  • 15
    • 1542377379 scopus 로고    scopus 로고
    • Mini-review: Defense strategies and immunity-related genes
    • Trowsdale, J. & Parham, P. Mini-review: defense strategies and immunity-related genes. Eur. J. Immunol. 34, 7-17 (2004).
    • (2004) Eur. J. Immunol , vol.34 , pp. 7-17
    • Trowsdale, J.1    Parham, P.2
  • 16
    • 0033832415 scopus 로고    scopus 로고
    • A chimpanzee genome project is a biomedical imperative
    • Varki, A. A chimpanzee genome project is a biomedical imperative. Genome Res. 10, 1065-1070 (2000).
    • (2000) Genome Res , vol.10 , pp. 1065-1070
    • Varki, A.1
  • 17
    • 28844466854 scopus 로고    scopus 로고
    • Comparing the human and chimpanzee genomes: Searching for needles in a haystack
    • Varki, A. & Altheide, T. K. Comparing the human and chimpanzee genomes: searching for needles in a haystack. Genome Res. 15, 1746-1758 (2005).
    • (2005) Genome Res , vol.15 , pp. 1746-1758
    • Varki, A.1    Altheide, T.K.2
  • 18
    • 0031897964 scopus 로고    scopus 로고
    • Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution
    • Yang, Z. Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution. Mol. Biol. Evol. 15, 568-573 (1998).
    • (1998) Mol. Biol. Evol , vol.15 , pp. 568-573
    • Yang, Z.1
  • 19
    • 33646244720 scopus 로고    scopus 로고
    • Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome
    • Arbiza, L., Dopazo, J. & Dopazo, H. Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome. PLoS Comput. Biol. 2, e38 (2006).
    • (2006) PLoS Comput. Biol , vol.2
    • Arbiza, L.1    Dopazo, J.2    Dopazo, H.3
  • 20
    • 27144539145 scopus 로고    scopus 로고
    • Natural selection on protein-coding genes in the human genome
    • Bustamante, C. D. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005). This paper assesses the genome-wide impact of weak negative and positive selection on protein-coding regions since humans and chimpanzees started to diverge.
    • (2005) Nature , vol.437 , pp. 1153-1157
    • Bustamante, C.D.1
  • 21
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • The Chimpanzee Sequencing and Analysis Consortium
    • The Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
    • (2005) Nature , vol.437 , pp. 69-87
  • 22
    • 34247352040 scopus 로고    scopus 로고
    • Evolutionary and biomedical insights from the rhesus macaque genome
    • Gibbs, R. A. et al. Evolutionary and biomedical insights from the rhesus macaque genome. Science 316, 222-234 (2007).
    • (2007) Science , vol.316 , pp. 222-234
    • Gibbs, R.A.1
  • 23
    • 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
  • 24
    • 50849122974 scopus 로고    scopus 로고
    • Patterns of positive selection in six mammalian genomes
    • Kosiol, C. et al. Patterns of positive selection in six mammalian genomes. PLoS Genet. 4, e1000144 (2008).
    • (2008) PLoS Genet , vol.4
    • Kosiol, C.1
  • 25
    • 10644283823 scopus 로고    scopus 로고
    • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
    • International Chicken Genome Sequencing Consortium
    • International Chicken Genome Sequencing Consortium. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature 432, 695-716 (2004).
    • (2004) Nature , vol.432 , pp. 695-716
  • 26
    • 0346243805 scopus 로고    scopus 로고
    • Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios
    • Clark, A. G. et al. Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science 302, 1960-1963 (2003). The first genome-wide analysis of genes evolving under positive selection in the human evolutionary lineage.
    • (2003) Science , vol.302 , pp. 1960-1963
    • Clark, A.G.1
  • 27
    • 34250659350 scopus 로고    scopus 로고
    • More genes underwent positive selection in chimpanzee evolution than in human evolution
    • Bakewell, M. A., Shi, P. & Zhang, J. More genes underwent positive selection in chimpanzee evolution than in human evolution. Proc. Natl Acad. Sci. USA 104, 7489-7494 (2007).
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 7489-7494
    • Bakewell, M.A.1    Shi, P.2    Zhang, J.3
  • 28
    • 55149097875 scopus 로고    scopus 로고
    • The role of positive selection in determining the molecular cause of species differences in disease
    • Vamathevan, J. J. et al. The role of positive selection in determining the molecular cause of species differences in disease. BMC Evol. Biol. 8, 273 (2008).
    • (2008) BMC Evol. Biol , vol.8 , pp. 273
    • Vamathevan, J.J.1
  • 29
    • 15244350550 scopus 로고    scopus 로고
    • Simian immunodeficiency virus infection of chimpanzees
    • Sharp, P. M., Shaw, G. M. & Hahn, B. H. Simian immunodeficiency virus infection of chimpanzees. J. Virol. 79, 3891-3902 (2005).
    • (2005) J. Virol , vol.79 , pp. 3891-3902
    • Sharp, P.M.1    Shaw, G.M.2    Hahn, B.H.3
  • 30
    • 57449099742 scopus 로고    scopus 로고
    • Immunity in natural SIV infections
    • Silvestri, G. Immunity in natural SIV infections. J. Intern. Med. 265, 97-109 (2009).
    • (2009) J. Intern. Med , vol.265 , pp. 97-109
    • Silvestri, G.1
  • 31
    • 67749145263 scopus 로고    scopus 로고
    • Increased mortality and AIDS-like immunopathology in wild chimpanzees infected with SIVcpz
    • Keele, B. F. et al. Increased mortality and AIDS-like immunopathology in wild chimpanzees infected with SIVcpz. Nature 460, 515-519 (2009).
    • (2009) Nature , vol.460 , pp. 515-519
    • Keele, B.F.1
  • 32
    • 0028120915 scopus 로고
    • Transcription factor PRDII-BF1 activates human immunodeficiency virus type 1 gene expression
    • Seeler, J. S., Muchardt, C., Suessle, A. & Gaynor, R. B. Transcription factor PRDII-BF1 activates human immunodeficiency virus type 1 gene expression. J. Virol. 68, 1002-1009 (1994).
    • (1994) J. Virol , vol.68 , pp. 1002-1009
    • Seeler, J.S.1    Muchardt, C.2    Suessle, A.3    Gaynor, R.B.4
  • 33
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
    • Gonzalez, E. et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-1440 (2005).
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1
  • 34
    • 59249106248 scopus 로고    scopus 로고
    • Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in rhesus macaques (Macaca mulatta)
    • Degenhardt, J. D. et al. Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in rhesus macaques (Macaca mulatta). PLoS Genet. 5, e1000346 (2009).
    • (2009) PLoS Genet , vol.5
    • Degenhardt, J.D.1
  • 35
    • 0036187509 scopus 로고    scopus 로고
    • Natural selection on the erythrocyte surface
    • Baum, J., Ward, R. H. & Conway, D. J. Natural selection on the erythrocyte surface. Mol. Biol. Evol. 19, 223-229 (2002).
    • (2002) Mol. Biol. Evol , vol.19 , pp. 223-229
    • Baum, J.1    Ward, R.H.2    Conway, D.J.3
  • 36
    • 0242414672 scopus 로고    scopus 로고
    • Rapidly evolving genes in human I. the glycophorins and their possible role in evading malaria parasites
    • Wang, H. Y., Tang, H., Shen, C. K. & Wu, C. I. Rapidly evolving genes in human. I. The glycophorins and their possible role in evading malaria parasites. Mol. Biol. Evol. 20, 1795-1804 (2003).
    • (2003) Mol. Biol. Evol. , vol.20 , pp. 1795-1804
    • Wang, H.Y.1    Tang, H.2    Shen, C.K.3    Wu, C.I.4
  • 37
    • 70450253261 scopus 로고    scopus 로고
    • Molecular evolution of GYPC: Evidence for recent structural innovation and positive selection in humans
    • 13 Aug doi:10.1093/molbev/msp183
    • Wilder, J. A., Hewett, E. K. & Gansner, M. E. Molecular evolution of GYPC: evidence for recent structural innovation and positive selection in humans. Mol. Biol. Evol. 13 Aug 2009 (doi:10.1093/molbev/msp183).
    • (2009) Mol. Biol. Evol.
    • Wilder, J.A.1    Hewett, E.K.2    Gansner, M.E.3
  • 38
    • 0037234392 scopus 로고    scopus 로고
    • Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations
    • Maier, A. G. et al. Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations. Nature Med. 9, 87-92 (2003).
    • (2003) Nature Med , vol.9 , pp. 87-92
    • Maier, A.G.1
  • 39
    • 0028122878 scopus 로고
    • Receptor and ligand domains for invasion of erythrocytes by Plasmodium falciparum
    • Sim, B. K., Chitnis, C. E., Wasniowska, K., Hadley, T. J. & Miller, L. H. Receptor and ligand domains for invasion of erythrocytes by Plasmodium falciparum. Science 264, 1941-1944 (1994).
    • (1994) Science , vol.264 , pp. 1941-1944
    • Sim, B.K.1    Chitnis, C.E.2    Wasniowska, K.3    Hadley, T.J.4    Miller, L.H.5
  • 40
    • 24644481321 scopus 로고    scopus 로고
    • Evolution of human-chimpanzee differences in malaria susceptibility: Relationship to human genetic loss of N-glycolylneuraminic acid
    • Martin, M. J., Rayner, J. C., Gagneux, P. , Barnwell, J. W. & Varki, A. Evolution of human-chimpanzee differences in malaria susceptibility: relationship to human genetic loss of N-glycolylneuraminic acid. Proc. Natl Acad. Sci. USA 102, 12819-12824 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 12819-12824
    • Martin, M.J.1    Rayner, J.C.2    Gagneux, P.3    Barnwell, J.W.4    Varki, A.5
  • 41
    • 0016669094 scopus 로고
    • Evolution at two levels in humans and chimpanzees
    • King, M. C. & Wilson, A. C. Evolution at two levels in humans and chimpanzees. Science 188, 107-116 (1975).
    • (1975) Science , vol.188 , pp. 107-116
    • King, M.C.1    Wilson, A.C.2
  • 42
    • 57149084867 scopus 로고    scopus 로고
    • Gene regulation in primates evolves under tissue-specific selection pressures
    • Blekhman, R., Oshlack, A., Chabot, A. E., Smyth, G. K. & Gilad, Y. Gene regulation in primates evolves under tissue-specific selection pressures. PLoS Genet. 4, e1000271 (2008).
    • (2008) PLoS Genet , vol.4
    • Blekhman, R.1    Oshlack, A.2    Chabot, A.E.3    Smyth, G.K.4    Gilad, Y.5
  • 43
    • 37249061101 scopus 로고    scopus 로고
    • Accelerated rate of gene gain and loss in primates
    • Hahn, M. W., Demuth, J. P. & Han, S. G. Accelerated rate of gene gain and loss in primates. Genetics 177, 1941-1949 (2007).
    • (2007) Genetics , vol.177 , pp. 1941-1949
    • Hahn, M.W.1    Demuth, J.P.2    Han, S.G.3
  • 44
    • 33644980516 scopus 로고    scopus 로고
    • Gene losses during human origins
    • Wang, X., Grus, W. E. & Zhang, J. Gene losses during human origins. PLoS Biol. 4, e52 (2006).
    • (2006) PLoS Biol , vol.4
    • Wang, X.1    Grus, W.E.2    Zhang, J.3
  • 45
    • 34548448436 scopus 로고    scopus 로고
    • Gene copy number variation spanning 60 million years of human and primate evolution
    • Dumas, L. et al. Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res. 17, 1266-1277 (2007).
    • (2007) Genome Res , vol.17 , pp. 1266-1277
    • Dumas, L.1
  • 46
    • 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
  • 47
    • 33746693757 scopus 로고    scopus 로고
    • Genomic signatures of positive selection in humans and the limits of outlier approaches
    • Kelley, J. L., Madeoy, J., Calhoun, J. C., Swanson, W. & Akey, J. M. Genomic signatures of positive selection in humans and the limits of outlier approaches. Genome Res. 16, 980-989 (2006).
    • (2006) Genome Res , vol.16 , pp. 980-989
    • Kelley, J.L.1    Madeoy, J.2    Calhoun, J.C.3    Swanson, W.4    Akey, J.M.5
  • 48
    • 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
  • 49
    • 39749136156 scopus 로고    scopus 로고
    • Natural selection has driven population differentiation in modern humans
    • Barreiro, L. B., Laval, G., Quach, H., Patin, E. & Quintana-Murci, L. Natural selection has driven population differentiation in modern humans. Nature Genet. 40, 340-345 (2008).
    • (2008) Nature Genet , vol.40 , pp. 340-345
    • Barreiro, L.B.1    Laval, G.2    Quach, H.3    Patin, E.4    Quintana-Murci, L.5
  • 50
    • 55849095847 scopus 로고    scopus 로고
    • A practical genome scan for population-specific strong selective sweeps that have reached fixation
    • Kimura, R., Fujimoto, A., Tokunaga, K. & Ohashi, J. A practical genome scan for population-specific strong selective sweeps that have reached fixation. PLoS ONE 2, e286 (2007).
    • (2007) PLoS ONE , vol.2
    • Kimura, R.1    Fujimoto, A.2    Tokunaga, K.3    Ohashi, J.4
  • 51
    • 35349012592 scopus 로고    scopus 로고
    • Genome-wide detection and characterization of positive selection in human populations
    • Sabeti, P. C. et al. Genome-wide detection and characterization of positive selection in human populations. Nature 449, 913-918 (2007).
    • (2007) Nature , vol.449 , pp. 913-918
    • Sabeti, P.C.1
  • 52
    • 34547110828 scopus 로고    scopus 로고
    • A new approach for using genome scans to detect recent positive selection in the human genome
    • Tang, K., Thornton, K. R. & Stoneking, M. A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol. 5, e171 (2007).
    • (2007) PLoS Biol , vol.5
    • Tang, K.1    Thornton, K.R.2    Stoneking, M.3
  • 53
    • 33644981509 scopus 로고    scopus 로고
    • A map of recent positive selection in the human genome
    • 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 reports a genome-wide scan, based on haplotype structure information, for recent and ongoing positive selection in human populations.
    • (2006) PLoS Biol , vol.4
    • Voight, B.F.1    Kudaravalli, S.2    Wen, X.3    Pritchard, J.K.4
  • 54
    • 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
  • 55
    • 34249089649 scopus 로고    scopus 로고
    • Origins of major human infectious diseases
    • Wolfe, N. D., Dunavan, C. P. & Diamond, J. Origins of major human infectious diseases. Nature 447, 279-283 (2007).
    • (2007) Nature , vol.447 , pp. 279-283
    • Wolfe, N.D.1    Dunavan, C.P.2    Diamond, J.3
  • 57
    • 59949095839 scopus 로고    scopus 로고
    • Widespread balancing selection and pathogen-driven selection at blood group antigen genes
    • Fumagalli, M. et al. Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res. 19, 199-212 (2009).
    • (2009) Genome Res , vol.19 , pp. 199-212
    • Fumagalli, M.1
  • 58
    • 67449110978 scopus 로고    scopus 로고
    • Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions
    • Fumagalli, M. et al. Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J. Exp. Med. 206, 1395-1408 (2009).
    • (2009) J. Exp. Med , vol.206 , pp. 1395-1408
    • Fumagalli, M.1
  • 59
    • 20144369614 scopus 로고    scopus 로고
    • Pathogen-driven selection and worldwide HLA class i diversity
    • Prugnolle, F. et al. Pathogen-driven selection and worldwide HLA class I diversity. Curr. Biol. 15, 1022-1027 (2005). The first study to correlate the worldwide genetic diversity at HLA class I genes with pathogen presence.
    • (2005) Curr. Biol , vol.15 , pp. 1022-1027
    • Prugnolle, F.1
  • 60
    • 0023764283 scopus 로고
    • Pattern of nucleotide substitution at major histocompatibility complex class i loci reveals overdominant selection
    • Hughes, A. L. & Nei, M. Pattern of nucleotide substitution at major histocompatibility complex class I loci reveals overdominant selection. Nature 335, 167-170 (1988).
    • (1988) Nature , vol.335 , pp. 167-170
    • Hughes, A.L.1    Nei, M.2
  • 61
    • 0026010293 scopus 로고
    • Heterozygosity at individual amino acid sites: Extremely high levels for HLA-A and-B genes
    • Hedrick, P. W., Whittam, T. S. & Parham, P. Heterozygosity at individual amino acid sites: extremely high levels for HLA-A and-B genes. Proc. Natl Acad. Sci. USA 88, 5897-5901 (1991).
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 5897-5901
    • Hedrick, P.W.1    Whittam, T.S.2    Parham, P.3
  • 62
    • 0026711015 scopus 로고
    • And balancing selection at major histocompatibility complex loci
    • Takahata, N., Satta, Y. & Klein, J. Polymorphism and balancing selection at major histocompatibility complex loci. Genetics 130, 925-938 (1992). References 60-62 describe how the extraordinary levels of genetic diversity observed at the major histocompatibility complex may result from the action of balancing selection.
    • (1992) Genetics , vol.130 , pp. 925-938
    • Takahata, N.1    Satta, Y.2    Polymorphism, K.J.3
  • 63
    • 0036679358 scopus 로고    scopus 로고
    • A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5
    • Bamshad, M. J. et al. A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5. Proc. Natl Acad. Sci. USA 99, 10539-10544 (2002).
    • (2002) Proc. Natl Acad. Sci. USA , vol.99 , pp. 10539-10544
    • Bamshad, M.J.1
  • 64
    • 27844602105 scopus 로고    scopus 로고
    • The geographic spread of the CCR5 δ32 HIV-resistance allele
    • Novembre, J., Galvani, A. P. & Slatkin, M. The geographic spread of the CCR5 Δ32 HIV-resistance allele. PLoS Biol. 3, e339 (2005).
    • (2005) PLoS Biol , vol.3
    • Novembre, J.1    Galvani, A.P.2    Slatkin, M.3
  • 65
    • 17344372255 scopus 로고    scopus 로고
    • Dating the origin of the CCR5?Δ32 AIDS-resistance allele by the coalescence of haplotypes
    • Stephens, J. C. et al. Dating the origin of the CCR5?Δ32 AIDS-resistance allele by the coalescence of haplotypes Am. J. Hum. Genet. 62, 1507-1515 (1998).
    • (1998) Am. J. Hum. Genet , vol.62 , pp. 1507-1515
    • Stephens, J.C.1
  • 66
    • 27844526221 scopus 로고    scopus 로고
    • The case for selection at CCR5?Δ32
    • Sabeti, P. C. et al. The case for selection at CCR5?Δ32. PLoS Biol. 3, e378 (2005).
    • (2005) PLoS Biol , vol.3
    • Sabeti, P.C.1
  • 67
    • 33749443426 scopus 로고    scopus 로고
    • Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands
    • Arenzana-Seisdedos, F. & Parmentier, M. Genetics of resistance to HIV infection: role of co-receptors and co-receptor ligands. Semin. Immunol. 18, 387-403 (2006).
    • (2006) Semin. Immunol , vol.18 , pp. 387-403
    • Arenzana-Seisdedos, F.1    Parmentier, M.2
  • 68
    • 13044263875 scopus 로고    scopus 로고
    • Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes
    • Gonzalez, E. et al. Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proc. Natl Acad. Sci. USA 96, 12004-12009 (1999).
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 12004-12009
    • Gonzalez, E.1
  • 69
    • 0033521155 scopus 로고    scopus 로고
    • Use of chemokine receptors by poxviruses
    • Lalani, A. S. et al. Use of chemokine receptors by poxviruses. Science 286, 1968-1971 (1999).
    • (1999) Science , vol.286 , pp. 1968-1971
    • Lalani, A.S.1
  • 70
    • 34548312401 scopus 로고    scopus 로고
    • Global diversity and evidence for coevolution of KIR and HLA
    • Single, R. M. et al. Global diversity and evidence for coevolution of KIR and HLA. Nature Genet. 39, 1114-1119 (2007).
    • (2007) Nature Genet , vol.39 , pp. 1114-1119
    • Single, R.M.1
  • 71
    • 52949151185 scopus 로고    scopus 로고
    • Is mate choice in humans MHC-dependent?
    • Chaix, R., Cao, C. & Donnelly, P. Is mate choice in humans MHC-dependent? PLoS Genet. 4, e1000184 (2008).
    • (2008) PLoS Genet , vol.4
    • Chaix, R.1    Cao, C.2    Donnelly, P.3
  • 72
    • 0030882609 scopus 로고    scopus 로고
    • HLA and mate choice in humans
    • Ober, C. et al. HLA and mate choice in humans. Am. J. Hum. Genet. 61, 497-504 (1997).
    • (1997) Am. J. Hum. Genet , vol.61 , pp. 497-504
    • Ober, C.1
  • 73
    • 0030006049 scopus 로고    scopus 로고
    • Population biology of antigen presentation by MHC class i molecules
    • Parham, P. & Ohta, T. Population biology of antigen presentation by MHC class I molecules. Science 272, 67-74 (1996).
    • (1996) Science , vol.272 , pp. 67-74
    • Parham, P.1    Ohta, T.2
  • 74
    • 15044338866 scopus 로고    scopus 로고
    • The global distribution of clinical episodes of Plasmodium falciparum malaria
    • Snow, R. W., Guerra, C. A., Noor, A. M., Myint, H. Y. & Hay, S. I. The global distribution of clinical episodes of Plasmodium falciparum malaria. Nature 434, 214-217 (2005).
    • (2005) Nature , vol.434 , pp. 214-217
    • Snow, R.W.1    Guerra, C.A.2    Noor, A.M.3    Myint, H.Y.4    Hay, S.I.5
  • 75
    • 22544441601 scopus 로고    scopus 로고
    • How malaria has affected the human genome and what human genetics can teach us about malaria
    • Kwiatkowski, D. P. How malaria has affected the human genome and what human genetics can teach us about malaria. Am. J. Hum. Genet. 77, 171-192 (2005). The most comprehensive review of the genetic basis of resistance to malaria in humans and the selective pressures that are exerted by malaria in the human genome.
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 171-192
    • Kwiatkowski, D.P.1
  • 77
    • 0034307363 scopus 로고    scopus 로고
    • Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S
    • Agarwal, A. et al. Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. Blood 96, 2358-2363 (2000).
    • (2000) Blood , vol.96 , pp. 2358-2363
    • Agarwal, A.1
  • 78
    • 0035891266 scopus 로고    scopus 로고
    • Haemoglobin C protects against clinical Plasmodium falciparum malaria
    • Modiano, D. et al. Haemoglobin C protects against clinical Plasmodium falciparum malaria. Nature 414, 305-308 (2001).
    • (2001) Nature , vol.414 , pp. 305-308
    • Modiano, D.1
  • 79
    • 0037103372 scopus 로고    scopus 로고
    • Hemoglobin E: A balanced polymorphism protective against high parasitemias and thus severe P. falciparum malaria
    • Chotivanich, K. et al. Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P. falciparum malaria. Blood 100, 1172-1176 (2002).
    • (2002) Blood , vol.100 , pp. 1172-1176
    • Chotivanich, K.1
  • 80
    • 2442701397 scopus 로고    scopus 로고
    • Extended linkage disequilibrium surrounding the hemoglobin e variant due to malarial selection
    • Ohashi, J. et al. Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. Am. J. Hum. Genet. 74, 1198-1208 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1198-1208
    • Ohashi, J.1
  • 81
    • 0028275906 scopus 로고
    • Identification of the erythrocyte binding domains of Plasmodium vivax and Plasmodium knowlesi proteins involved in erythrocyte invasion
    • Chitnis, C. E. & Miller, L. H. Identification of the erythrocyte binding domains of Plasmodium vivax and Plasmodium knowlesi proteins involved in erythrocyte invasion. J. Exp. Med. 180, 497-506 (1994).
    • (1994) J. Exp. Med , vol.180 , pp. 497-506
    • Chitnis, C.E.1    Miller, L.H.2
  • 82
    • 0029001881 scopus 로고
    • Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals
    • Tournamille, C., Colin, Y., Cartron, J. P. & Le Van Kim, C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genet. 10, 224-228 (1995).
    • (1995) Nature Genet , vol.10 , pp. 224-228
    • Tournamille, C.1    Colin, Y.2    Cartron, J.P.3    Le Van Kim, C.4
  • 84
    • 0033911892 scopus 로고    scopus 로고
    • Detection of the signature of natural selection in humans: Evidence from the Duffy blood group locus
    • Hamblin, M. T. & Di Rienzo, A. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am. J. Hum. Genet. 66, 1669-1679 (2000).
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1669-1679
    • Hamblin, M.T.1    Di Rienzo, A.2
  • 85
    • 0036157464 scopus 로고    scopus 로고
    • Complex signatures of natural selection at the Duffy blood group locus
    • Hamblin, M. T. , Thompson, E. E. & Di Rienzo, A. Complex signatures of natural selection at the Duffy blood group locus. Am. J. Hum. Genet. 70, 369-383 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 369-383
    • Hamblin, M.T.1    Thompson, E.E.2    Di Rienzo, A.3
  • 86
    • 0034729792 scopus 로고    scopus 로고
    • Malaria susceptibility and CD36 mutation
    • Aitman, T. J. et al. Malaria susceptibility and CD36 mutation. Nature 405, 1015-1016 (2000).
    • (2000) Nature , vol.405 , pp. 1015-1016
    • Aitman, T.J.1
  • 87
    • 0031875836 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency and malaria
    • Ruwende, C. & Hill, A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J. Mol. Med. 76, 581-588 (1998).
    • (1998) J. Mol. Med , vol.76 , pp. 581-588
    • Ruwende, C.1    Hill, A.2
  • 88
    • 0036692110 scopus 로고    scopus 로고
    • CD40L association with protection from severe malaria
    • Sabeti, P. et al. CD40L association with protection from severe malaria. Genes Immun. 3, 286-291 (2002).
    • (2002) Genes Immun , vol.3 , pp. 286-291
    • Sabeti, P.1
  • 89
    • 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
  • 90
    • 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
  • 91
    • 0036139250 scopus 로고    scopus 로고
    • s Senegal mutation
    • S Senegal mutation. Am. J. Hum. Genet. 70, 207-223 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 207-223
    • Currat, M.1
  • 92
    • 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
  • 93
    • 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
  • 94
    • 0037432740 scopus 로고    scopus 로고
    • Early origin and recent expansion of Plasmodium falciparum
    • Joy, D. A. et al. Early origin and recent expansion of Plasmodium falciparum. Science 300, 318-321 (2003).
    • (2003) Science , vol.300 , pp. 318-321
    • Joy, D.A.1
  • 95
    • 0037111861 scopus 로고    scopus 로고
    • A polytene chromosome analysis of the Anopheles gambiae species complex
    • Coluzzi, M., Sabatini, A., della Torre, A., Di Deco, M. A. & Petrarca, V. A polytene chromosome analysis of the Anopheles gambiae species complex. Science 298, 1415-1418 (2002).
    • (2002) Science , vol.298 , pp. 1415-1418
    • Coluzzi, M.1    Sabatini, A.2    Della Torre, A.3    Di Deco, M.A.4    Petrarca, V.5
  • 96
    • 68249118173 scopus 로고    scopus 로고
    • Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense
    • Barreiro, L. B. et al. Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet. 5, e1000562 (2009). The first evolutionary dissection of how natural selection has targeted the TLR family members in humans.
    • (2009) PLoS Genet , vol.5
    • Barreiro, L.B.1
  • 97
    • 0343009022 scopus 로고
    • eds Jones, S., Martin, R. & Pilbeam, D. Cambridge Univ. Press
    • Dobson, A. in The Cambridge Encyclopedia of Human Evolution (eds Jones, S., Martin, R. & Pilbeam, D.) 411-420 (Cambridge Univ. Press, 1992).
    • (1992) The Cambridge Encyclopedia of Human Evolution , pp. 411-420
    • Dobson, A.1
  • 98
    • 35548956882 scopus 로고    scopus 로고
    • Immunology in natura: Clinical, epidemiological and evolutionary genetics of infectious diseases
    • Quintana-Murci, L., Alcais, A., Abel, L. & Casanova, J. L. Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases. Nature Immunol. 8, 1165-1171 (2007).
    • (2007) Nature Immunol , vol.8 , pp. 1165-1171
    • Quintana-Murci, L.1    Alcais, A.2    Abel, L.3    Casanova, J.L.4
  • 100
    • 2542497911 scopus 로고    scopus 로고
    • Human mannose-binding lectin in immunity: Friend, foe, or both?
    • Casanova, J. L. & Abel, L. Human mannose-binding lectin in immunity: friend, foe, or both? J. Exp. Med. 199, 1295-1299 (2004).
    • (2004) J. Exp. Med , vol.199 , pp. 1295-1299
    • Casanova, J.L.1    Abel, L.2
  • 101
    • 0345550400 scopus 로고    scopus 로고
    • Impact of mannose-binding lectin on susceptibility to infectious diseases
    • Eisen, D. P. & Minchinton, R. M. Impact of mannose-binding lectin on susceptibility to infectious diseases. Clin. Infect. Dis. 37, 1496-1505 (2003).
    • (2003) Clin. Infect. Dis , vol.37 , pp. 1496-1505
    • Eisen, D.P.1    Minchinton, R.M.2
  • 102
    • 33747892638 scopus 로고    scopus 로고
    • Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
    • Verdu, P. et al. Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum. Mol. Genet. 15, 2650-2658 (2006).
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2650-2658
    • Verdu, P.1
  • 103
    • 4644308684 scopus 로고    scopus 로고
    • Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection
    • Bernig, T. et al. Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection. Genes Immun. 5, 461-476 (2004).
    • (2004) Genes Immun , vol.5 , pp. 461-476
    • Bernig, T.1
  • 104
    • 66349114360 scopus 로고    scopus 로고
    • Signatures of natural selection are not uniform across genes of innate immune system, but purifying selection is the dominant signature
    • Mukherjee, S., Sarkar-Roy, N., Wagener, D. K. & Majumder, P. P. Signatures of natural selection are not uniform across genes of innate immune system, but purifying selection is the dominant signature. Proc. Natl Acad. Sci. USA 106, 7073-7078 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 7073-7078
    • Mukherjee, S.1    Sarkar-Roy, N.2    Wagener, D.K.3    Majumder, P.P.4
  • 105
    • 33644522070 scopus 로고    scopus 로고
    • Searching for signals of evolutionary selection in 168 genes related to immune function
    • Walsh, E. C. et al. Searching for signals of evolutionary selection in 168 genes related to immune function. Hum. Genet. 11 9 , 92-102 (2006).
    • (2006) Hum. Genet , vol.11 , Issue.9 , pp. 92-102
    • Walsh, E.C.1
  • 106
    • 1642495736 scopus 로고    scopus 로고
    • L-ficolin specifically binds to lipoteichoic acid, a cell wall constituent of Gram-positive bacteria, and activates the lectin pathway of complement
    • Lynch, N. J. et al. L-ficolin specifically binds to lipoteichoic acid, a cell wall constituent of Gram-positive bacteria, and activates the lectin pathway of complement. J. Immunol. 172, 1198-1202 (2004).
    • (2004) J. Immunol , vol.172 , pp. 1198-1202
    • Lynch, N.J.1
  • 107
    • 4644367448 scopus 로고    scopus 로고
    • Antibody-mediated activation of the classical pathway of complement may compensate for mannose-binding lectin deficiency
    • Roos, A. et al. Antibody-mediated activation of the classical pathway of complement may compensate for mannose-binding lectin deficiency. Eur. J. Immunol. 34, 2589-2598 (2004).
    • (2004) Eur. J. Immunol , vol.34 , pp. 2589-2598
    • Roos, A.1
  • 108
    • 0035953543 scopus 로고    scopus 로고
    • The innate immune response to bacterial flagellin is mediated by Toll-like receptor 5
    • Hayashi, F. et al. The innate immune response to bacterial flagellin is mediated by Toll-like receptor 5. Nature 410, 1099-1103 (2001).
    • (2001) Nature , vol.410 , pp. 1099-1103
    • Hayashi, F.1
  • 109
    • 10744226016 scopus 로고    scopus 로고
    • A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease
    • Hawn, T. R. et al. A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease. J. Exp. Med. 198, 1563-1572 (2003).
    • (2003) J. Exp. Med , vol.198 , pp. 1563-1572
    • Hawn, T.R.1
  • 110
    • 62349126241 scopus 로고    scopus 로고
    • A history of recurrent positive selection at the Toll-like receptor 5 in primates
    • Wlasiuk, G., Khan, S., Switzer, W. M. & Nachman, M. W. A history of recurrent positive selection at the Toll-like receptor 5 in primates. Mol. Biol. Evol. 26, 937-949 (2009).
    • (2009) Mol. Biol. Evol , vol.26 , pp. 937-949
    • Wlasiuk, G.1    Khan, S.2    Switzer, W.M.3    Nachman, M.W.4
  • 111
    • 23044475966 scopus 로고    scopus 로고
    • A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus
    • Hawn, T. R. et al. A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus. Proc. Natl Acad. Sci. USA 102, 10593-10597 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 10593-10597
    • Hawn, T.R.1
  • 112
    • 33744464740 scopus 로고    scopus 로고
    • Cytosolic flagellin requires Ipaf for activation of caspase-1 and interleukin 1β in salmonella-infected macrophages
    • Franchi, L. et al. Cytosolic flagellin requires Ipaf for activation of caspase-1 and interleukin 1β in salmonella-infected macrophages. Nature Immunol. 7, 576-582 (2006).
    • (2006) Nature Immunol , vol.7 , pp. 576-582
    • Franchi, L.1
  • 113
    • 34548679608 scopus 로고    scopus 로고
    • TLR5 and Ipaf: Dual sensors of bacterial flagellin in the innate immune system
    • Miao, E. A., Andersen-Nissen, E., Warren, S. E. & Aderem, A. TLR5 and Ipaf: dual sensors of bacterial flagellin in the innate immune system. Semin. Immunopathol. 29, 275-288 (2007).
    • (2007) Semin. Immunopathol , vol.29 , pp. 275-288
    • Miao, E.A.1    Andersen-Nissen, E.2    Warren, S.E.3    Aderem, A.4
  • 114
    • 0033360995 scopus 로고    scopus 로고
    • When less is more: Gene loss as an engine of evolutionary change
    • Olson, M. V. When less is more: gene loss as an engine of evolutionary change. Am. J. Hum. Genet. 64, 18-23 (1999).
    • (1999) Am. J. Hum. Genet , vol.64 , pp. 18-23
    • Olson, M.V.1
  • 115
    • 42749086285 scopus 로고    scopus 로고
    • Evidence for natural selection on leukocyte immunoglobulin-like receptors for HLA class i in Northeast Asians
    • Hirayasu, K. et al. Evidence for natural selection on leukocyte immunoglobulin-like receptors for HLA class I in Northeast Asians. Am. J. Hum. Genet. 82, 1075-1083 (2008).
    • (2008) Am. J. Hum. Genet , vol.82 , pp. 1075-1083
    • Hirayasu, K.1
  • 116
    • 33846805804 scopus 로고    scopus 로고
    • Sequence diversity at the proximal 14q32. SERPIN subcluster: Evidence for natural selection favoring the pseudogenization of SERPINA2
    • Seixas, S. et al. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Mol. Biol. Evol. 24, 587-598 (2007).
    • (2007) Mol. Biol. Evol , vol.24 , pp. 587-598
    • Seixas, S.1
  • 117
    • 33645462359 scopus 로고    scopus 로고
    • Spread of an inactive form of caspase-12 in humans is due to recent positive selection
    • Xue, Y. et al. Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am. J. Hum. Genet. 78, 659-670 (2006). An intriguing example of how the loss of an immunity-related gene can represent a selective advantage in humans.
    • (2006) Am. J. Hum. Genet , vol.78 , pp. 659-670
    • Xue, Y.1
  • 118
    • 62649121542 scopus 로고    scopus 로고
    • A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs
    • Yngvadottir, B. et al. A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am. J. Hum. Genet. 84, 224-234 (2009).
    • (2009) Am. J. Hum. Genet , vol.84 , pp. 224-234
    • Yngvadottir, B.1
  • 119
    • 2342457148 scopus 로고    scopus 로고
    • Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms
    • Saleh, M. et al. Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms. Nature 429, 75-79 (2004).
    • (2004) Nature , vol.429 , pp. 75-79
    • Saleh, M.1
  • 120
    • 33845478357 scopus 로고    scopus 로고
    • The inflammatory caspases: Guardians against infections and sepsis
    • Scott, A. M. & Saleh, M. The inflammatory caspases: guardians against infections and sepsis. Cell Death Differ. 14, 23-31 (2007).
    • (2007) Cell Death Differ , vol.14 , pp. 23-31
    • Scott, A.M.1    Saleh, M.2
  • 121
    • 55549143682 scopus 로고    scopus 로고
    • Copy number variation and evolution in humans and chimpanzees
    • Perry, G. H. et al. Copy number variation and evolution in humans and chimpanzees. Genome Res. 18, 1698-1710 (2008).
    • (2008) Genome Res , vol.18 , pp. 1698-1710
    • Perry, G.H.1
  • 122
    • 45449101500 scopus 로고    scopus 로고
    • Natural selection on genes that underlie human disease susceptibility
    • Blekhman, R. et al. Natural selection on genes that underlie human disease susceptibility. Curr. Biol. 18, 883-889 (2008).
    • (2008) Curr. Biol , vol.18 , pp. 883-889
    • Blekhman, R.1
  • 123
    • 66049128908 scopus 로고    scopus 로고
    • Darwinian and demographic forces affecting human protein coding genes
    • Nielsen, R. et al. Darwinian and demographic forces affecting human protein coding genes. Genome Res. 19, 838-849 (2009).
    • (2009) Genome Res , vol.19 , pp. 838-849
    • Nielsen, R.1
  • 124
    • 0037471003 scopus 로고    scopus 로고
    • Pyogenic bacterial infections in humans with IRAK-4 deficiency
    • Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076-2079 (2003).
    • (2003) Science , vol.299 , pp. 2076-2079
    • Picard, C.1
  • 125
    • 48749109290 scopus 로고    scopus 로고
    • Pyogenic bacterial infections in humans with MyD88 deficiency
    • Von Bernuth, H. et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science 321, 691-696 (2008).
    • (2008) Science , vol.321 , pp. 691-696
    • Von Bernuth, H.1
  • 126
    • 34548699323 scopus 로고    scopus 로고
    • TLR3 deficiency in patients with herpes simplex encephalitis
    • Zhang, S. Y. et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 31 7 , 1522-1527 (2007).
    • (2007) Science , vol.31 , Issue.7 , pp. 1522-1527
    • Zhang, S.Y.1
  • 127
    • 33847209550 scopus 로고    scopus 로고
    • Human genetics of infectious diseases: A unified theory
    • Casanova, J. L. & Abel, L. Human genetics of infectious diseases: a unified theory. EMBO J. 26, 915-922 (2007). An important review of the genetic basis of infectious diseases in humans, bridging the dysfunctional gap between Mendelian genetics and population-based complex genetics.
    • (2007) EMBO J , vol.26 , pp. 915-922
    • Casanova, J.L.1    Abel, L.2
  • 128
    • 33750935988 scopus 로고    scopus 로고
    • Population genetics models of common diseases
    • Di Rienzo, A. Population genetics models of common diseases. Curr. Opin. Genet. Dev. 16, 630-636 (2006).
    • (2006) Curr. Opin. Genet. Dev , vol.16 , pp. 630-636
    • Di Rienzo, A.1
  • 129
    • 0034858250 scopus 로고    scopus 로고
    • Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans
    • Smirnova, I., Hamblin, M. T., McBride, C., Beutler, B. & Di Rienzo, A. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics 158, 1657-1664 (2001).
    • (2001) Genetics , vol.158 , pp. 1657-1664
    • Smirnova, I.1    Hamblin, M.T.2    McBride, C.3    Beutler, B.4    Di Rienzo, A.5
  • 130
    • 15544369643 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious disease
    • Schroder, N. W. & Schumann, R. R. Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious disease. Lancet Infect. Dis. 5, 156-164 (2005).
    • (2005) Lancet Infect. Dis , vol.5 , pp. 156-164
    • Schroder, N.W.1    Schumann, R.R.2
  • 131
    • 42949132877 scopus 로고    scopus 로고
    • Full-exon resequencing reveals Toll-like receptor variants contribute to human susceptibility to tuberculosis disease
    • Ma, X. et al. Full-exon resequencing reveals Toll-like receptor variants contribute to human susceptibility to tuberculosis disease. PLoS ONE 2, e1318 (2007).
    • (2007) PLoS ONE , vol.2
    • Ma, X.1
  • 132
    • 48949118047 scopus 로고    scopus 로고
    • Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction
    • Misch, E. A. et al. Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. PLoS Negl. Trop. Dis. 2, e231 (2008).
    • (2008) PLoS Negl. Trop. Dis , vol.2
    • Misch, E.A.1
  • 133
    • 66049157487 scopus 로고    scopus 로고
    • Signals of recent positive selection in a worldwide sample of human populations
    • Pickrell, J. K. et al. Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19, 826-837 (2009).
    • (2009) Genome Res , vol.19 , pp. 826-837
    • Pickrell, J.K.1
  • 134
    • 47249142778 scopus 로고    scopus 로고
    • Revealing the architecture of gene regulation: The promise of eQTL studies
    • Gilad, Y. , Rifkin, S. A. & Pritchard, J. K. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 24, 408-415 (2008).
    • (2008) Trends Genet , vol.24 , pp. 408-415
    • Gilad, Y.1    Rifkin, S.A.2    Pritchard, J.K.3
  • 135
    • 55449125813 scopus 로고    scopus 로고
    • Modifier effects between regulatory and protein-coding variation
    • Dimas, A. S. et al. Modifier effects between regulatory and protein-coding variation. PLoS Genet. 4, e1000244 (2008).
    • (2008) PLoS Genet , vol.4
    • Dimas, A.S.1
  • 136
    • 34548738566 scopus 로고    scopus 로고
    • Population genomics of human gene expression
    • Stranger, B. E. et al. Population genomics of human gene expression. Nature Genet. 39, 1217-1224 (2007).
    • (2007) Nature Genet , vol.39 , pp. 1217-1224
    • Stranger, B.E.1
  • 138
    • 69949176863 scopus 로고    scopus 로고
    • Common regulatory variation impacts gene expression in a cell type-dependent manner
    • Dimas, A. S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246-1250 (2009).
    • (2009) Science , vol.325 , pp. 1246-1250
    • Dimas, A.S.1
  • 139
    • 68249100715 scopus 로고    scopus 로고
    • A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease
    • Ko, D. C. et al. A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease. Am. J. Hum. Genet. 85, 214-227 (2009).
    • (2009) Am. J. Hum. Genet , vol.85 , pp. 214-227
    • Ko, D.C.1
  • 141
    • 33646183566 scopus 로고    scopus 로고
    • Genetic analysis of host resistance: Toll-like receptor signaling and immunity at large
    • Beutler, B. et al. Genetic analysis of host resistance: Toll-like receptor signaling and immunity at large. Annu. Rev. Immunol. 24, 353-389 (2006).
    • (2006) Annu. Rev. Immunol , vol.24 , pp. 353-389
    • Beutler, B.1
  • 142
    • 0035524488 scopus 로고    scopus 로고
    • Toll-like receptors and innate immunity
    • Medzhitov, R. Toll-like receptors and innate immunity. Nature Rev. Immunol. 1, 135-145 (2001).
    • (2001) Nature Rev. Immunol , vol.1 , pp. 135-145
    • Medzhitov, R.1
  • 143
    • 39449112512 scopus 로고    scopus 로고
    • Toll-like receptors - Taking an evolutionary approach
    • Leulier, F. & Lemaitre, B. Toll-like receptors - taking an evolutionary approach. Nature Rev. Genet. 9, 165-178 (2008). An outstanding overview of the origins, evolution and different functions of TLRs across the animal kingdom.
    • (2008) Nature Rev. Genet , vol.9 , pp. 165-178
    • Leulier, F.1    Lemaitre, B.2
  • 144
    • 31344461659 scopus 로고    scopus 로고
    • Innate immune recognition of viral infection
    • DOI 10.1038/ni1303, PII N1303
    • Kawai, T. & Akira, S. Innate immune recognition of viral infection. Nature Immunol. 7, 131-137 (2006). (Pubitemid 43135878)
    • (2006) Nature Immunology , vol.7 , Issue.2 , pp. 131-137
    • Kawai, T.1    Akira, S.2
  • 147
    • 35748937030 scopus 로고    scopus 로고
    • Recognition of viruses by innate immunity
    • Takeuchi, O. & Akira, S. Recognition of viruses by innate immunity. Immunol. Rev. 220, 214-224 (2007).
    • (2007) Immunol. Rev , vol.220 , pp. 214-224
    • Takeuchi, O.1    Akira, S.2
  • 149
    • 0035753991 scopus 로고    scopus 로고
    • Autoreactivity by design: Innate B and T lymphocytes
    • Bendelac, A., Bonneville, M. & Kearney, J. F. Autoreactivity by design: innate B and T lymphocytes. Nature Rev. Immunol. 1, 177-186 (2001).
    • (2001) Nature Rev. Immunol , vol.1 , pp. 177-186
    • Bendelac, A.1    Bonneville, M.2    Kearney, J.F.3
  • 151
    • 0034097040 scopus 로고    scopus 로고
    • Discovering the role of the major histocompatibility complex in the immune response
    • McDevitt, H. O. Discovering the role of the major histocompatibility complex in the immune response. Annu. Rev. Immunol. 18, 1-17 (2000)
    • (2000) Annu. Rev. Immunol , vol.18 , pp. 1-17
    • McDevitt, H.O.1
  • 152
    • 58549117084 scopus 로고    scopus 로고
    • Genetics and the understanding of selection
    • Hurst, L. D. Genetics and the understanding of selection. Nature Rev. Genet. 10, 83-93 (2009).
    • (2009) Nature Rev. Genet , vol.10 , pp. 83-93
    • Hurst, L.D.1
  • 153
    • 29444452921 scopus 로고    scopus 로고
    • Molecular signatures of natural selection
    • Nielsen, R. Molecular signatures of natural selection. Annu. Rev. Genet. 39, 197-218 (2005).
    • (2005) Annu. Rev. Genet , vol.39 , pp. 197-218
    • Nielsen, R.1
  • 154
    • 0034575442 scopus 로고    scopus 로고
    • Methods to detect selection in populations with applications to the human
    • Kreitman, M. Methods to detect selection in populations with applications to the human. Annu. Rev. Genomics Hum. Genet. 1, 539-559 (2000). References 152-154 are thorough reviews on how natural selection acts, its signatures and implications, and the different methods used for detecting selection based on population genetic data.
    • (2000) Annu. Rev. Genomics Hum. Genet , vol.1 , pp. 539-559
    • Kreitman, M.1
  • 155
    • 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
  • 156
    • 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
  • 157
    • 28644440530 scopus 로고    scopus 로고
    • The signature of positive selection on standing genetic variation
    • Przeworski, M., Coop, G. & Wall, J. D. The signature of positive selection on standing genetic variation. Evolution 59, 2312-2323 (2005).
    • (2005) Evolution , vol.59 , pp. 2312-2323
    • Przeworski, M.1    Coop, G.2    Wall, J.D.3
  • 158
    • 33646484211 scopus 로고    scopus 로고
    • Balancing selection and its effects on sequences in nearby genome regions
    • Charlesworth, D. Balancing selection and its effects on sequences in nearby genome regions. PLoS Genet. 2, e64 (2006).
    • (2006) PLoS Genet , vol.2
    • Charlesworth, D.1
  • 159
    • 0026428610 scopus 로고
    • Adaptive protein evolution at the Adh locus in Drosophila
    • McDonald, J. H. & Kreitman, M. Adaptive protein evolution at the Adh locus in Drosophila. Nature 351, 652-654 (1991).
    • (1991) Nature , vol.351 , pp. 652-654
    • McDonald, J.H.1    Kreitman, M.2
  • 160
    • 0031972161 scopus 로고    scopus 로고
    • Likelihood models for detecting positively selected amino acid sites and applications to the HIV-1 envelope gene
    • Nielsen, R. & Yang, Z. Likelihood models for detecting positively selected amino acid sites and applications to the HIV-1 envelope gene. Genetics 148, 929-936 (1998).
    • (1998) Genetics , vol.148 , pp. 929-936
    • Nielsen, R.1    Yang, Z.2
  • 161
    • 0033639150 scopus 로고    scopus 로고
    • Statistical methods for detecting molecular adaptation
    • Yang, Z. & Bielawski, J. P. Statistical methods for detecting molecular adaptation. Trends Ecol. Evol. 15, 496-503 (2000).
    • (2000) Trends Ecol. Evol , vol.15 , pp. 496-503
    • Yang, Z.1    Bielawski, J.P.2
  • 162
    • 33644978910 scopus 로고    scopus 로고
    • Proceedings of the SMBE Tri-National Young Investigators' Workshop 2005. Control of the false discovery rate applied to the detection of positively selected amino acid sites
    • Guindon, S., Black, M. & Rodrigo, A. Proceedings of the SMBE Tri-National Young Investigators' Workshop 2005. Control of the false discovery rate applied to the detection of positively selected amino acid sites. Mol. Biol. Evol. 23, 919-926 (2006).
    • (2006) Mol. Biol. Evol , vol.23 , pp. 919-926
    • Guindon, S.1    Black, M.2    Rodrigo, A.3
  • 163
    • 34249074492 scopus 로고    scopus 로고
    • Progress and prospects in mapping recent selection in the genome
    • Thornton, K. R., Jensen, J. D., Becquet, C. & Andolfatto, P. Progress and prospects in mapping recent selection in the genome. Heredity 98, 340-348 (2007).
    • (2007) Heredity , vol.98 , pp. 340-348
    • Thornton, K.R.1    Jensen, J.D.2    Becquet, C.3    Andolfatto, P.4
  • 164
    • 0021566877 scopus 로고
    • Estimating F-statistics for the analysis of population structure
    • Weir, C. L. & Cockerham, C. C. Estimating F-statistics for the analysis of population structure. Evolution 38, 1358-1370 (1984).
    • (1984) Evolution , vol.38 , pp. 1358-1370
    • Weir, C.L.1    Cockerham, C.C.2
  • 166
    • 54149088214 scopus 로고    scopus 로고
    • Epistasis - The essential role of gene interactions in the structure and evolution of genetic systems
    • Phillips, P. C. Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems. Nature Rev. Genet. 9, 855-867 (2008).
    • (2008) Nature Rev. Genet , vol.9 , pp. 855-867
    • Phillips, P.C.1
  • 167
    • 0036215134 scopus 로고    scopus 로고
    • KIR: Diverse, rapidly evolving receptors of innate and adaptive immunity
    • Vilches, C. & Parham, P. KIR: diverse, rapidly evolving receptors of innate and adaptive immunity. Annu. Rev. Immunol. 20, 217-251 (2002).
    • (2002) Annu. Rev. Immunol , vol.20 , pp. 217-251
    • Vilches, C.1    Parham, P.2
  • 168
    • 17144363242 scopus 로고    scopus 로고
    • Understanding how combinations of HLA and KIR genes influence disease
    • Rajagopalan, S. & Long, E. O. Understanding how combinations of HLA and KIR genes influence disease. J. Exp. Med. 201, 1025-1029 (2005).
    • (2005) J. Exp. Med , vol.201 , pp. 1025-1029
    • Rajagopalan, S.1    Long, E.O.2
  • 169
    • 34548348144 scopus 로고    scopus 로고
    • Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans
    • Norman, P. J. et al. Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans. Nature Genet. 39, 1092-1099 (2007).
    • (2007) Nature Genet , vol.39 , pp. 1092-1099
    • Norman, P.J.1


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