-
1
-
-
22944461763
-
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
-
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
-
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
-
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
-
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
-
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
-
8
-
-
58249091802
-
Ecological immunology
-
Schulenburg, H., Kurtz, J., Moret, Y. & Siva-Jothy, M. T. Introduction. Ecological immunology. Phil. Trans. R. Soc. Lond. B 364, 3-14 (2009).
-
(2009)
Phil. Trans. R. Soc. Lond. B
, vol.364
, pp. 3-14
-
-
Schulenburg, H.1
Kurtz, J.2
Moret, Y.3
-
9
-
-
32944464648
-
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
-
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
-
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
-
12
-
-
35348988170
-
Recent and ongoing selection in the human genome
-
DOI 10.1038/nrg2187, PII NRG2187
-
Nielsen, R., Hellmann, I., Hubisz, M., Bustamante, C & Clark, A. G. Recent and ongoing selection in the human genome. Nature Rev. Genet. 8, 857-868 (2007). (Pubitemid 47609088)
-
(2007)
Nature Reviews Genetics
, vol.8
, Issue.11
, pp. 857-868
-
-
Nielsen, R.1
Hellmann, I.2
Hubisz, M.3
Bustamante, C.4
Clark, A.G.5
-
13
-
-
33745121154
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
76
-
-
0032429141
-
The population genetics of the haemoglobinopathies
-
Flint, J., Harding, R. M., Boyce, A. J. & Clegg, J. B. The population genetics of the haemoglobinopathies. Baillieres Clin. Haematol. 11 , 1-51 (1998).
-
(1998)
Baillieres Clin. Haematol
, vol.11
, pp. 1-51
-
-
Flint, J.1
Harding, R.M.2
Boyce, A.J.3
Clegg, J.B.4
-
77
-
-
0034307363
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
99
-
-
33644772194
-
Mannose-binding lectin and its genetic variants
-
Garred, P. , Larsen, F. , Seyfarth, J., Fujita, R. & Madsen, H. O. Mannose-binding lectin and its genetic variants. Genes Immun. 7, 85-94 (2006).
-
(2006)
Genes Immun
, vol.7
, pp. 85-94
-
-
Garred, P.1
Larsen, F.2
Seyfarth, J.3
Fujita, R.4
Madsen, H.O.5
-
100
-
-
2542497911
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
137
-
-
60149091864
-
Gene expression levels are a target of recent natural selection in the human genome
-
Kudaravalli, S., Veyrieras, J. B., Stranger, B. E., Dermitzakis, E. T. & Pritchard, J. K. Gene expression levels are a target of recent natural selection in the human genome. Mol. Biol. Evol. 26, 649-658 (2009).
-
(2009)
Mol. Biol. Evol
, vol.26
, pp. 649-658
-
-
Kudaravalli, S.1
Veyrieras, J.B.2
Stranger, B.E.3
Dermitzakis, E.T.4
Pritchard, J.K.5
-
138
-
-
69949176863
-
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
-
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
-
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
-
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
-
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
-
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
-
145
-
-
2542474306
-
Self-and nonself-recognition by C-type lectins on dendritic cells
-
Geijtenbeek, T. B., van Vliet, S. J., Engering, A., Hart, B. A. & van Kooyk, Y. Self-and nonself-recognition by C-type lectins on dendritic cells. Annu. Rev. Immunol. 22, 33-54 (2004).
-
(2004)
Annu. Rev. Immunol
, vol.22
, pp. 33-54
-
-
Geijtenbeek, T.B.1
Van Vliet, S.J.2
Engering, A.3
Hart, B.A.4
Van Kooyk, Y.5
-
146
-
-
33846330896
-
Nod-like proteins in immunity, inflammation and disease
-
Fritz, J. H., Ferrero, R. L., Philpott, D. J. & Girardin, S. E. Nod-like proteins in immunity, inflammation and disease. Nature Immunol. 7, 1250-1257 (2006).
-
(2006)
Nature Immunol
, vol.7
, pp. 1250-1257
-
-
Fritz, J.H.1
Ferrero, R.L.2
Philpott, D.J.3
Girardin, S.E.4
-
147
-
-
35748937030
-
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
-
148
-
-
0026708716
-
(D)J recombination: Molecular biology and regulation
-
Schatz, D. G., Oettinger, M. A. & Schlissel, M. S. V(D)J recombination: molecular biology and regulation. Annu. Rev. Immunol. 10, 359-383 (1992).
-
(1992)
Annu. Rev. Immunol.
, Issue.10
, pp. 359-383
-
-
Schatz, D.G.1
Oettinger, M.A.2
Schlissel, M.S.V.3
-
149
-
-
0035753991
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|