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Volumn 71, Issue 9, 2010, Pages 922-928

Balanced polymorphism in bottlenecked populations: The case of the CCR5 5' cis-regulatory region in Amazonian Amerindians

Author keywords

5' cis regulatory region of CCR5 gene; Amerindians; Balancing selection; Demography; Genetic drift

Indexed keywords

CHEMOKINE RECEPTOR CCR5;

EID: 77956011687     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2010.05.022     Document Type: Article
Times cited : (6)

References (59)
  • 1
    • 0029856309 scopus 로고    scopus 로고
    • Chemokine receptors: Gateways to inflammation and infection
    • Premack B.A., Schall T.J. Chemokine receptors: Gateways to inflammation and infection. Nat Med 1996, 2:1174-1178.
    • (1996) Nat Med , vol.2 , pp. 1174-1178
    • Premack, B.A.1    Schall, T.J.2
  • 2
    • 0030698047 scopus 로고    scopus 로고
    • Cellular localization of the chemokine receptor CCR5. Correlation to cellular targets of HIV-1 infection
    • Rottman J.B., Ganley K.P., Williams K., Wu L., Mackay C.R., Ringler D.J. Cellular localization of the chemokine receptor CCR5. Correlation to cellular targets of HIV-1 infection. Am J Pathol 1997, 151:1341-1351.
    • (1997) Am J Pathol , vol.151 , pp. 1341-1351
    • Rottman, J.B.1    Ganley, K.P.2    Williams, K.3    Wu, L.4    Mackay, C.R.5    Ringler, D.J.6
  • 4
    • 0030712312 scopus 로고    scopus 로고
    • Mechanism of transdominant inhibition of CCR5-mediated HIV-1 infection by ccr5delta32
    • Benkirane M., Jin D.Y., Chun R.F., Koup R.A., Jeang K.T. Mechanism of transdominant inhibition of CCR5-mediated HIV-1 infection by ccr5delta32. J Biol Chem 1997, 272:30603-30606.
    • (1997) J Biol Chem , vol.272 , pp. 30603-30606
    • Benkirane, M.1    Jin, D.Y.2    Chun, R.F.3    Koup, R.A.4    Jeang, K.T.5
  • 5
    • 0030987288 scopus 로고    scopus 로고
    • CCR5 levels and expression pattern correlate with infectability by macrophage-tropic HIV-1, in vitro
    • Wu L., Paxton W., Kassam N., Ruffing N., Rottman J.B., Sullivan N., et al. CCR5 levels and expression pattern correlate with infectability by macrophage-tropic HIV-1, in vitro. J Exp Med 1997, 185:1681-1691.
    • (1997) J Exp Med , vol.185 , pp. 1681-1691
    • Wu, L.1    Paxton, W.2    Kassam, N.3    Ruffing, N.4    Rottman, J.B.5    Sullivan, N.6
  • 6
    • 0032837669 scopus 로고    scopus 로고
    • Genetics of HIV-1 infection: Chemokine receptor CCR5 polymorphism and its consequences
    • Carrington M., Dean M., Martin M.P., O'Brien S.J. Genetics of HIV-1 infection: Chemokine receptor CCR5 polymorphism and its consequences. Hum Mol Genet 1999, 8:1939-1945.
    • (1999) Hum Mol Genet , vol.8 , pp. 1939-1945
    • Carrington, M.1    Dean, M.2    Martin, M.P.3    O'Brien, S.J.4
  • 7
    • 0034284489 scopus 로고    scopus 로고
    • Multiple nonfunctional alleles of CCR5 are frequent in various human populations
    • Blanpain C., Lee B., Tackoen M., Puffer B., Boom A., Libert F., et al. Multiple nonfunctional alleles of CCR5 are frequent in various human populations. Blood 2000, 96:1638-1645.
    • (2000) Blood , vol.96 , pp. 1638-1645
    • Blanpain, C.1    Lee, B.2    Tackoen, M.3    Puffer, B.4    Boom, A.5    Libert, F.6
  • 9
    • 66649132792 scopus 로고    scopus 로고
    • Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in euro-Brazilians
    • Boldt A., Culpi L., Tsuneto L., Souza I., Kun J., Petzl-Erler Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in euro-Brazilians. Genet Mol Biol 2009, 32:12.
    • (2009) Genet Mol Biol , vol.32 , pp. 12
    • Boldt, A.1    Culpi, L.2    Tsuneto, L.3    Souza, I.4    Kun, J.5    Petzl-Erler6
  • 11
    • 0034705597 scopus 로고    scopus 로고
    • Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Potential roles for haplotype and mRNA diversity, differential haplotype-specific transcriptional activity, and altered transcription factor binding to polymorphic nucleotides in the pathogenesis of HIV-1 and simian immunodeficiency virus
    • Mummidi S., Bamshad M., Ahuja S.S., Gonzalez E., Feuillet P.M., Begum K., et al. Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Potential roles for haplotype and mRNA diversity, differential haplotype-specific transcriptional activity, and altered transcription factor binding to polymorphic nucleotides in the pathogenesis of HIV-1 and simian immunodeficiency virus. J Biol Chem 2000, 275:18946-18961.
    • (2000) J Biol Chem , vol.275 , pp. 18946-18961
    • Mummidi, S.1    Bamshad, M.2    Ahuja, S.S.3    Gonzalez, E.4    Feuillet, P.M.5    Begum, K.6
  • 13
    • 33748915808 scopus 로고    scopus 로고
    • Nucleotide variation and haplotype diversity in a 10-kb noncoding region in three continental human populations
    • Zhao Z., Yu N., Fu Y., Li W. Nucleotide variation and haplotype diversity in a 10-kb noncoding region in three continental human populations. Genetics 2006, 174:399-409.
    • (2006) Genetics , vol.174 , pp. 399-409
    • Zhao, Z.1    Yu, N.2    Fu, Y.3    Li, W.4
  • 14
    • 28744446297 scopus 로고    scopus 로고
    • Evidence of balancing selection at the HLA-G promoter region
    • Tan Z., Shon A., Ober C. Evidence of balancing selection at the HLA-G promoter region. Hum Mol Genet 2005, 14:3619-3628.
    • (2005) Hum Mol Genet , vol.14 , pp. 3619-3628
    • Tan, Z.1    Shon, A.2    Ober, C.3
  • 15
    • 33344455672 scopus 로고    scopus 로고
    • An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide
    • Liu X., Fu Y., Liu Z., Lin B., Xie Y., Liu Y., et al. An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide. Am J Hum Genet 2006, 78:393-400.
    • (2006) Am J Hum Genet , vol.78 , pp. 393-400
    • Liu, X.1    Fu, Y.2    Liu, Z.3    Lin, B.4    Xie, Y.5    Liu, Y.6
  • 16
    • 34247857423 scopus 로고    scopus 로고
    • HLA-G. 14-bp polymorphism at exon 8 in Amerindian populations from the Brazilian Amazon
    • Mendes-Junior C., Castelli E., SimÖes R., SimÖes A., Donadi E. HLA-G. 14-bp polymorphism at exon 8 in Amerindian populations from the Brazilian Amazon. Tissue Antigens 2007, 69:255-260.
    • (2007) Tissue Antigens , vol.69 , pp. 255-260
    • Mendes-Junior, C.1    Castelli, E.2    SimÖes, R.3    SimÖes, A.4    Donadi, E.5
  • 17
    • 29144525031 scopus 로고    scopus 로고
    • High level of functional polymorphism indicates a unique role of natural selection at human immune system loci
    • Hughes A., Packer B., Welch R., Chanock S., Yeager M. High level of functional polymorphism indicates a unique role of natural selection at human immune system loci. Immunogenetics 2005, 57:821-827.
    • (2005) Immunogenetics , vol.57 , pp. 821-827
    • Hughes, A.1    Packer, B.2    Welch, R.3    Chanock, S.4    Yeager, M.5
  • 18
    • 59949095839 scopus 로고    scopus 로고
    • Widespread balancing selection and pathogen-driven selection at blood group antigen genes
    • Fumagalli M., Cagliani R., Pozzoli U., Riva S., Comi G.P., Menozzi G., et al. Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res 2009, 19:199-212.
    • (2009) Genome Res , vol.19 , pp. 199-212
    • Fumagalli, M.1    Cagliani, R.2    Pozzoli, U.3    Riva, S.4    Comi, G.P.5    Menozzi, G.6
  • 19
    • 33847057226 scopus 로고    scopus 로고
    • The evolutionary significance of cis-regulatory mutations
    • Wray G.A. The evolutionary significance of cis-regulatory mutations. Nat Rev Genet 2007, 8:206-216.
    • (2007) Nat Rev Genet , vol.8 , pp. 206-216
    • Wray, G.A.1
  • 20
    • 34249040814 scopus 로고    scopus 로고
    • The molecular signature of selection underlying human adaptations
    • Harris E.E., Meyer D. The molecular signature of selection underlying human adaptations. Am J Phys Anthropol 2006, 43(Suppl):89-130.
    • (2006) Am J Phys Anthropol , vol.43 , Issue.SUPPL. , pp. 89-130
    • Harris, E.E.1    Meyer, D.2
  • 21
    • 0037307413 scopus 로고    scopus 로고
    • Signatures of natural selection in the human genome
    • Bamshad M., Wooding S.P. Signatures of natural selection in the human genome. Nat Rev Genet 2003, 4:99-111.
    • (2003) Nat Rev Genet , vol.4 , pp. 99-111
    • Bamshad, M.1    Wooding, S.P.2
  • 22
    • 10344221021 scopus 로고    scopus 로고
    • Disentangling the effects of demography and selection in human history
    • Stajich J., Hahn M. Disentangling the effects of demography and selection in human history. Mol Biol Evol 2005, 22:63-73.
    • (2005) Mol Biol Evol , vol.22 , pp. 63-73
    • Stajich, J.1    Hahn, M.2
  • 24
    • 0031055330 scopus 로고    scopus 로고
    • A single and early migration for the peopling of the Americas supported by mitochondrial DNA sequence data
    • Bonatto S.L., Salzano F.M. A single and early migration for the peopling of the Americas supported by mitochondrial DNA sequence data. Proc Natl Acad Sci U S A 1997, 94:1866-1871.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 1866-1871
    • Bonatto, S.L.1    Salzano, F.M.2
  • 25
    • 41149133334 scopus 로고    scopus 로고
    • Mitochondrial population genomics supports a single pre-Clovis origin with a Coastal route for the peopling of the Americas
    • Fagundes N., Kanitz R., Eckert R., Valls A.C., Bogo M.R., Salzano F.M., et al. Mitochondrial population genomics supports a single pre-Clovis origin with a Coastal route for the peopling of the Americas. Am J Hum Genet 2008, 82:583-592.
    • (2008) Am J Hum Genet , vol.82 , pp. 583-592
    • Fagundes, N.1    Kanitz, R.2    Eckert, R.3    Valls, A.C.4    Bogo, M.R.5    Salzano, F.M.6
  • 30
  • 31
    • 0034987801 scopus 로고    scopus 로고
    • Genetic differentiation in south Amerindians is related to environmental and cultural diversity: Evidence from the Y chromosome
    • Tarazona-Santos E., Carvalho-Silva D., Pettener D., Luiselli D., De Stefano G.F., Labarga C.M., et al. Genetic differentiation in south Amerindians is related to environmental and cultural diversity: Evidence from the Y chromosome. Am J Hum Genet 2001, 68:1485-1496.
    • (2001) Am J Hum Genet , vol.68 , pp. 1485-1496
    • Tarazona-Santos, E.1    Carvalho-Silva, D.2    Pettener, D.3    Luiselli, D.4    De Stefano, G.F.5    Labarga, C.M.6
  • 32
    • 0034527213 scopus 로고    scopus 로고
    • Evolution of balanced genetic polymorphism
    • Richman A. Evolution of balanced genetic polymorphism. Mol Ecol 2000, 9:1953-1963.
    • (2000) Mol Ecol , vol.9 , pp. 1953-1963
    • Richman, A.1
  • 33
    • 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 2006, 2:e64.
    • (2006) PLoS Genet , vol.2
    • Charlesworth, D.1
  • 34
    • 0035212013 scopus 로고    scopus 로고
    • The split of the Arara population: Comparison of genetic drift and founder effect
    • Ribeiro-dos-Santos A.K., Guerreiro J.F., Santos S.E., Zago M.A. The split of the Arara population: Comparison of genetic drift and founder effect. Hum Hered 2001, 51:79-84.
    • (2001) Hum Hered , vol.51 , pp. 79-84
    • Ribeiro-dos-Santos, A.K.1    Guerreiro, J.F.2    Santos, S.E.3    Zago, M.A.4
  • 36
    • 0031978181 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using Phred. II. Error probabilities
    • Ewing B., Green P. Base-calling of automated sequencer traces using Phred. II. Error probabilities. Genome Res 1998, 8:186-194.
    • (1998) Genome Res , vol.8 , pp. 186-194
    • Ewing, B.1    Green, P.2
  • 37
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson D.A., Tobe V.O., Taylor S.L. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997, 25:2745-2751.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 38
    • 0031955116 scopus 로고    scopus 로고
    • Consed: A graphical tool for sequence finishing
    • Gordon D., Abajian C., Green P. Consed: A graphical tool for sequence finishing. Genome Res 1998, 8:195-202.
    • (1998) Genome Res , vol.8 , pp. 195-202
    • Gordon, D.1    Abajian, C.2    Green, P.3
  • 39
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M., Smith N.J., Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68:978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 40
    • 0026689178 scopus 로고
    • Performing the exact test of Hardy-Weinberg proportion for multiple alleles
    • Guo S.W., Thompson E.A. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 1992, 48:361-372.
    • (1992) Biometrics , vol.48 , pp. 361-372
    • Guo, S.W.1    Thompson, E.A.2
  • 41
    • 0026681074 scopus 로고
    • Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data
    • Excoffier L., Smouse P.E., Quattro J.M. Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data. Genetics 1992, 131:479-491.
    • (1992) Genetics , vol.131 , pp. 479-491
    • Excoffier, L.1    Smouse, P.E.2    Quattro, J.M.3
  • 42
    • 0021066244 scopus 로고
    • Evolutionary relationship of DNA sequences in finite populations
    • Tajima F. Evolutionary relationship of DNA sequences in finite populations. Genetics 1983, 105:437-460.
    • (1983) Genetics , vol.105 , pp. 437-460
    • Tajima, F.1
  • 43
    • 0024313579 scopus 로고
    • Statistical method for testing the neutral mutation hypothesis by DNA olymorphism
    • Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA olymorphism. Genetics 1989, 123:585-595.
    • (1989) Genetics , vol.123 , pp. 585-595
    • Tajima, F.1
  • 44
    • 85007110786 scopus 로고    scopus 로고
    • Arlequin (version 3.0): An integrated software package for population genetics data analysis
    • Excoffier L., Laval G., Schneider S. Arlequin (version 3.0): An integrated software package for population genetics data analysis. Evol Bioinform Online 2005, 1:47-50.
    • (2005) Evol Bioinform Online , vol.1 , pp. 47-50
    • Excoffier, L.1    Laval, G.2    Schneider, S.3
  • 45
    • 0347513220 scopus 로고    scopus 로고
    • DnaSP, DNA polymorphism analyses by the coalescent and other methods
    • Rozas J., Sanchez-DelBarrio J.C., Messeguer X., Rozas R. DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003, 19:2496-2497.
    • (2003) Bioinformatics , vol.19 , pp. 2496-2497
    • Rozas, J.1    Sanchez-DelBarrio, J.C.2    Messeguer, X.3    Rozas, R.4
  • 46
    • 7244221627 scopus 로고    scopus 로고
    • A program to simulate genomic diversity over large recombining regions in a subdivided population with a complex history. 2.0
    • SIMCOAL
    • Laval G., Excoffier L. A program to simulate genomic diversity over large recombining regions in a subdivided population with a complex history. 2.0. Bioinformatics 2004, 20:2485-2487. SIMCOAL.
    • (2004) Bioinformatics , vol.20 , pp. 2485-2487
    • Laval, G.1    Excoffier, L.2
  • 48
  • 51
    • 13844317910 scopus 로고    scopus 로고
    • Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus
    • Tarazona-Santos E., Tishkoff S.A. Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus. Genes Immun 2005, 6:53-65.
    • (2005) Genes Immun , vol.6 , pp. 53-65
    • Tarazona-Santos, E.1    Tishkoff, S.A.2
  • 52
    • 33748761150 scopus 로고    scopus 로고
    • Diversity of the MBL2 gene in various Brazilian populations and the case of selection at the mannose-binding lectin locus
    • Boldt A., Culpi L., Tsuneto L., de Souza I., Kun J., Petzl-Erler M. Diversity of the MBL2 gene in various Brazilian populations and the case of selection at the mannose-binding lectin locus. Hum Immunol 2006, 67:722-734.
    • (2006) Hum Immunol , vol.67 , pp. 722-734
    • Boldt, A.1    Culpi, L.2    Tsuneto, L.3    de Souza, I.4    Kun, J.5    Petzl-Erler, M.6
  • 54
    • 22244453752 scopus 로고    scopus 로고
    • Worldwide genetic variation at the 3'-UTR region of the LDLR gene: Possible influence of natural selection
    • Fagundes N.J., Salzano F.M., Batzer M.A., Deininger P.L., Bonatto S.L. Worldwide genetic variation at the 3'-UTR region of the LDLR gene: Possible influence of natural selection. Ann Hum Genet 2005, 69:389-400.
    • (2005) Ann Hum Genet , vol.69 , pp. 389-400
    • Fagundes, N.J.1    Salzano, F.M.2    Batzer, M.A.3    Deininger, P.L.4    Bonatto, S.L.5
  • 55
    • 0032789358 scopus 로고    scopus 로고
    • Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: Analysis of the haplotype structure and genealogy
    • Jaruzelska J., Zietkiewicz E., Batzer M., Cole D.E., Moisan J.P., Scozzari R., et al. Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: Analysis of the haplotype structure and genealogy. Genetics 1999, 152:1091-1101.
    • (1999) Genetics , vol.152 , pp. 1091-1101
    • Jaruzelska, J.1    Zietkiewicz, E.2    Batzer, M.3    Cole, D.E.4    Moisan, J.P.5    Scozzari, R.6
  • 56
    • 0041817586 scopus 로고    scopus 로고
    • Human population structure and its effects on sampling Y chromosome sequence variation
    • Hammer M., Blackmer F., Garrigan D., Nachman M., Wilder J. Human population structure and its effects on sampling Y chromosome sequence variation. Genetics 2003, 164:1495-1509.
    • (2003) Genetics , vol.164 , pp. 1495-1509
    • Hammer, M.1    Blackmer, F.2    Garrigan, D.3    Nachman, M.4    Wilder, J.5
  • 58
    • 22744459171 scopus 로고    scopus 로고
    • A population genetic portrait of the peopling of the Americas
    • On the number of New World founders
    • Hey J. A population genetic portrait of the peopling of the Americas. PLoS Biol 2005, 3:e193. On the number of New World founders.
    • (2005) PLoS Biol , vol.3
    • Hey, J.1
  • 59
    • 0036843031 scopus 로고    scopus 로고
    • Evidence for population growth in humans is confounded by fine-scale population structure
    • Ptak S., Przeworski M. Evidence for population growth in humans is confounded by fine-scale population structure. Trends Genet 2002, 18:559-563.
    • (2002) Trends Genet , vol.18 , pp. 559-563
    • Ptak, S.1    Przeworski, M.2


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