Balancing selection is the main force shaping the evolution of innate immunity genes

被引:145
作者
Ferrer-Admetlla, Anna [1 ]
Bosch, Elena [1 ]
Sikora, Martin [1 ]
Marques-Bonet, Tomas [1 ]
Ramirez-Soriano, Anna [1 ]
Muntasell, Aura [2 ]
Navarro, Arcadi [1 ,3 ]
Lazarus, Ross [4 ]
Calafell, Francesc [1 ]
Bertranpetit, Jaume [1 ]
Casals, Ferran [1 ]
机构
[1] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Unitat Biol Evolut, Barcelona 08003, Spain
[2] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Unitat Immunopatol Mol, Barcelona 08003, Spain
[3] Natl Inst Bioinformat, Barcelona, Spain
[4] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Med,Channing Lab, Boston, MA 02115 USA
关键词
D O I
10.4049/jimmunol.181.2.1315
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
The evolutionarily recent geographic expansion of humans, and the even more recent development of large, relatively dense human settlements, has exposed our species to new pathogenic environments. Potentially lethal pathogens are likely to have exerted important selective pressures on our genome, so immunity genes can be expected to show molecular signatures of the adaptation of human populations to these recent conditions. While genes related to the acquired immunity system have indeed been reported to show traces of local adaptation, little is known about the response of the innate immunity system. In this study, we analyze the variability patterns in different human populations of fifteen genes related to innate immunity. We have used both single nucleotide polymorphism and sequence data, and through the analysis of interpopulation differentiation, the linkage disequilibrium pattern, and intrapopulation diversity, we have discovered some signatures of positive and especially balancing selection in these genes, thus confirming the importance of the immune system genetic plasticity in the evolutionary adaptive process. Interestingly, the strongest evidence is found in three TLR genes and CD14. These innate immunity genes play a pivotal role, being involved in the primary recognition of pathogens. In general, more evidences of selection appear in the European populations, in some case possibly related to severe population specific pressures. However, we also describe evidence from African populations, which may reflect parallel or long-term selective forces acting in different geographic areas.
引用
收藏
页码:1315 / 1322
页数:8
相关论文
共 58 条
[1]   Population history and natural selection shape patterns of genetic variation in 132 genes [J].
Akey, JM ;
Eberle, MA ;
Rieder, MJ ;
Carlson, CS ;
Shriver, MD ;
Nickerson, DA ;
Kruglyak, L .
PLOS BIOLOGY, 2004, 2 (10) :1591-1599
[2]   Interrogating a high-density SNP map for signatures of natural selection [J].
Akey, JM ;
Zhang, G ;
Zhang, K ;
Jin, L ;
Shriver, MD .
GENOME RESEARCH, 2002, 12 (12) :1805-1814
[3]   Pathogen recognition and innate immunity [J].
Akira, S ;
Uematsu, S ;
Takeuchi, O .
CELL, 2006, 124 (04) :783-801
[4]   Toll-like receptor signalling [J].
Akira, S ;
Takeda, K .
NATURE REVIEWS IMMUNOLOGY, 2004, 4 (07) :499-511
[5]   Molecular mechanisms of autoimmunity triggered by microbial infection [J].
Anders, HJ ;
Zecher, D ;
Pawar, RD ;
Patole, PS .
ARTHRITIS RESEARCH & THERAPY, 2005, 7 (05) :215-224
[6]   A polymorphism* in the 5′ flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E [J].
Baldini, M ;
Lohman, IC ;
Halonen, M ;
Erickson, RP ;
Holt, PG ;
Martinez, FD .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 1999, 20 (05) :976-983
[7]   Signatures of natural selection in the human genome [J].
Bamshad, M ;
Wooding, SP .
NATURE REVIEWS GENETICS, 2003, 4 (02) :99-111A
[8]   A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5 [J].
Bamshad, MJ ;
Mummidi, S ;
Gonzalez, E ;
Ahuja, SS ;
Dunn, DM ;
Watkins, WS ;
Wooding, S ;
Stone, AC ;
Jorde, LB ;
Weiss, RB ;
Ahuja, SK .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (16) :10539-10544
[9]   Median-joining networks for inferring intraspecific phylogenies [J].
Bandelt, HJ ;
Forster, P ;
Röhl, A .
MOLECULAR BIOLOGY AND EVOLUTION, 1999, 16 (01) :37-48
[10]   An apportionment of human DNA diversity [J].
Barbujani, G ;
Magagni, A ;
Minch, E ;
CavalliSforza, LL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (09) :4516-4519