REVIEW

Genome-scale analysis of demographic history and adaptive selection

  • Qi Wu ,
  • Pingping Zheng ,
  • Yibu Hu ,
  • Fuwen Wei
Expand
  • Key Lab of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China

Received date: 23 Jul 2013

Accepted date: 04 Nov 2013

Published date: 01 Feb 2014

Copyright

2014 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

One of the main topics in population genetics is identification of adaptive selection among populations. For this purpose, population history should be correctly inferred to evaluate the effect of random drift and exclude it in selection identification. With the rapid progress in genomics in the past decade, vast genomescale variations are available for population genetic analysis, which however requires more sophisticated models to infer species’ demographic history and robust methods to detect local adaptation. Here we aim to review what have been achieved in the fields of demographic modeling and selection detection. We summarize their rationales, implementations, and some classical applications. We also propose that some widely-used methods can be improved in both theoretical and practical aspects in near future.

Cite this article

Qi Wu , Pingping Zheng , Yibu Hu , Fuwen Wei . Genome-scale analysis of demographic history and adaptive selection[J]. Protein & Cell, 2014 , 5(2) : 99 -112 . DOI: 10.1007/s13238-013-0004-1

1
AdamsAM, HudsonRR (2004) Maximum-likelihood estimation of demographic parameters using the frequency spectrum of unlinked single-nucleotide polymorphisms. Genetics168: 1699-1712

DOI

2
AkeyJM, ZhangG, ZhangK, JinL, ShriverMD (2002) Interrogating a high-density SNP map for signatures of natural selection. Genome Res12: 1805-1814

DOI

3
AxelssonE, RatnakumarA, ArendtML, MaqboolK, WebsterMT, PerloskiM, LibergO, ArnemoJM, HedhammarA, Lindblad-Toh K (2013) The genomic signature of dog domestication reveals adaptation to a starch-rich diet. Nature495: 360-364

DOI

4
BatiniC, LopesJ, BeharDM, CalafellF, JordeLB, VanderVeenL, Quintana-MurciL, SpediniG, Destro-BisolG, ComasD (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol28: 1099-1110

DOI

5
BeaumontMA (2010) Approximate Bayesian computation in evolution and ecology. Annu Rev Ecol Evol Syst41: 379-406

DOI

6
BecquetC, PrzeworskiM (2007) A new approach to estimate parameters of speciation models with application to apes. Genome Res17: 1505-1519

DOI

7
BustamanteCD, Fledel-AlonA, WilliamsonS, NielsenR, HubiszMT, GlanowskiS, TanenbaumDM, WhiteTJ, SninskyJJ, HernandezRD, CivelloD, AdamsMD, CargillM, ClarkAG (2005) Natural selectionon protein-coding genes in the human genome. Nature437: 1153-1157

DOI

8
ClarkAG, GlanowskiS, NielsenR, ThomasPD, KejariwalA, ToddMA, TanenbaumDM, CivelloD, LuF, MurphyB (2003) Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science302: 1960-1963

DOI

9
CockerhamCC, WeirBS (1993) Estimation of gene flow from F-statistics. Evolution47: 855-863

DOI

10
CrisciJL, PohY, BeanA, SimkinA, JensenJD (2012) Recent progress in polymorphism-based population genetic inference. J Hered103: 287-296

DOI

11
DarwinC (1859) On the origin of species. John Murray, London

12
ExcoffierL, HoferT, FollM (2009) Detecting loci under selection in a hierarchically structured population. Heredity (Edinb)103: 285-298

DOI

13
ExcoffierL, LischerHE (2010) Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour10: 564-567

DOI

14
FayJC, WuCI (2000) Hitchhiking under positive Darwinian selection. Genetics155: 1405-1413

15
FisherRA (1930) The genetical theory of natural selection. Clarendon Press, Oxford

16
FuYX, LiWH (1993) Statistical tests of neutrality of mutations. Genetics133: 693-709

17
GrigorievIV, NordbergH, ShabalovI, AertsA, CantorM, GoodsteinD, KuoA, MinovitskyS, NikitinR, OhmRA (2013) The genome portal of the Department of Energy Joint Genome Institute. Nucleic Acids Res40(Database issue): D26-D32

18
GrossmanSR, ShlyakhterI, KarlssonEK, ByrneEH, MoralesS, FriedenG, HostetterE, AngelinoE, GarberM, ZukO (2010) A composite of multiple signals distinguishes causal variants in regions of positive selection. Science327: 883-886

DOI

19
GrossmanSR, AndersenKG, ShlyakhterI, TabriziS, WinnickiS, YenA, ParkDJ, GriesemerD, KarlssonEK, WongSH (2013) Identifying recent adaptations in large-scale genomic data. Cell152: 703-713

DOI

20
GutenkunstRN, HernandezRD, WilliamsonSH, BustamanteCD (2009) Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet5: e1000695

DOI

21
HakenH (1983) Synergetics. Springer, Berlin

DOI

22
HartlDL, ClarkAG (2007) Principles of population genetics, 4th edn. Sinauer Associates Inc, Sunderland

23
HernandezRD, WilliamsonSH, BustamanteCD (2007) Context dependence, ancestral misidentification, and spurious signatures of natural selection. Mol Biol Evol24: 1792-1800

DOI

24
HeyJ (2010) Isolation with migration models for more than two populations. Mol Biol Evol27: 905-920

DOI

25
HeyJ, NielsenR (2004) Multilocus methods for estimating population sizes, migration rates and divergence time, with applications to the divergence of Drosophila pseudoobscura and D. persimilis. Genetics167: 747-760

DOI

26
HudsonRR, KreitmanM, AguadeM (1987) A test of neutral molecular evolution based on nucleotide data. Genetics116: 153-159

27
HuoT, ZhangY, LinJ (2012) Functional annotation from the genome sequence of the giant panda. Protein Cell3: 602-608

DOI

28
HwangDG, GreenP (2004) Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc Natl Acad Sci USA101: 13994-14001

DOI

29
International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature409: 860-921

DOI

30
KimuraM (1955) Solution of a process of random genetic drift with a continuous model. Proc Natl Acad Sci USA41: 144-150

DOI

31
KimuraM (1968) Evolutionary rate at the molecular level. Nature217: 624-626

DOI

32
KosiolC, VinarT, da FonsecaRR, HubiszMJ, BustamanteCD, NielsenR, SiepelA (2008) Patterns of positive selection in six Mammalian genomes. PLoS Genet4: e1000144

DOI

33
KreitmanM, AkashiH (1995) Molecular evidence for natural selection. Annu Rev Ecol Syst26: 403-422

DOI

34
LamHM, XuX, LiuX, ChenW, YangG, WongFL, LiMW, HeW, QinN, WangB (2010) Resequencing of 31 wild and cultivated soybean genomes identifies patterns of genetic diversity and selection. Nat Genet42: 1053-1059

DOI

35
LiH, DurbinR (2011) Inference of human population history from individual whole-genome sequences. Nature475: 493-496

DOI

36
LiMH, Iso-TouruT, LaurenH, KantanenJ (2010) A microsatellitebased analysis for the detection of selection on BTA1 and BTA20 in northern Eurasian cattle (Bostaurus) populations. Genet Sel Evol42: 32

DOI

37
LopesJS, BaldingD, BeaumontMA (2009) PopABC: a program to infer historical demographic parameters. Bioinformatics25: 2747-2749

DOI

38
MannionAM (1999) Domestication and the origins of agriculture: an appraisal. Prog Phys Geogr23: 37-56

39
McDonaldJH, KreitmanM (1991) Adaptive protein evolution at the Adh locus in Drosophila. Nature351: 652-654

DOI

40
McVeanGA, CardinNJ (2005) Approximating the coalescent with recombination. Philos Trans R Soc Lond B Biol Sci360: 1387-1393

DOI

41
MillerW, SchusterSC, WelchAJ, RatanA, Bedoya-ReinaOC, ZhaoF, KimHL, BurhansRC, DrautzDI, WittekindtNE (2012) Polar and brown bear genomes reveal ancient admixture and demographic footprints of past climate change. Proc Natl Acad Sci USA109: E2382-E2390

DOI

42
NachmanMW, PayseurBA (2012) Recombination rate variation and speciation: theoretical predictions and empirical results from rabbits and mice. Trans R Soc Lond B Biol Sci367: 409-421

DOI

43
NCBI Resource Coordinators (2013) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res41(Database issue): D8-D20

44
NeiM (2005) Selectionism and neutralism in molecular evolution. Mol Biol Evol22: 2318-2342

DOI

45
NeiM, KumarS (2000) Molecular evolution and phylogenetics. Oxford University Press, Oxford

46
NielsenR, WakeleyJ (2001) Distinguishing migration from isolation: a Markov chain Monte Carlo approach. Genetics158: 885-896

47
NielsenR, BustamanteC, ClarkAG, GlanowskiS, SacktonTB, HubiszMJ, Fledel-AlonA, TanenbaumDM, CivelloD, WhiteTJ (2005) A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biol3: e170

DOI

48
NielsenR, HellmannI, HubiszM, BustamanteC, ClarkAG (2007) Recent and ongoing selection in the human genome. Nat Rev Genet8: 857-868

DOI

49
OhtaT (1992) The nearly neutral theory of molecular evolution. Annu Rev Ecol Syst23: 263-286

DOI

50
PaleroF, LopesJ, AbelloP, MacphersonE, PascualM, BeaumontMA (2009) Rapid radiation in spiny lobsters, Palinurus spp) as revealed by classic and ABC methods using mtDNA and microsatellite data. BMC Evol Biol9: 263

DOI

51
RubinCJ, ZodyMC, ErikssonJ, MeadowsJR, SherwoodE, WebsterMT, JiangL, IngmanM, SharpeT, KaS (2010) Whole-genome resequencing reveals loci under selection during chicken domestication. Nature464: 587-591

DOI

52
SabetiPC, ReichDE, HigginsJM, LevineHZ, RichterDJ, SchaffnerSF, GabrielSB, PlatkoJV, PattersonNJ, McDonaldGJ (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature419: 832-837

DOI

53
SabetiPC, SchaffnerSF, FryB, LohmuellerJ, VarillyP, ShamovskyO, PalmaA, MikkelsenTS, AltshulerD, LanderES (2006) Positive natural selection in the human lineage. Science312: 1614-1620

DOI

54
SabetiPC, VarillyP, FryB, LohmuellerJ, HostetterE, CotsapasC, XieX, ByrneEH, McCarrollSA, GaudetR (2007) Genomewide detection and characterization of positive selection in human populations. Nature449: 913-918

DOI

55
SimonsonTS, YangY, HuffCD, YunH, QinG, WitherspoonDJ, BaiZ, LorenzoFR, XingJ, JordeLB (2010) Genetic evidence for high-altitude adaptation in Tibet. Science329: 72-75

DOI

56
SlatkinM, VoelmL (1991) FST in a hierarchical island model. Genetics127: 627-629

57
TajimaF (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics123: 585-595

58
ThorntonK, AndolfattoP (2006) Approximate Bayesian inference reveals evidence for a recent, severe bottleneck in a Netherlands population of Drosophila melanogaster. Genetics172: 1607-1619

DOI

59
ToomajianC, HuTT, AranzanaMJ, ListerC, TangC, ZhengH, ZhaoK, CalabreseP, DeanC, NordborgM (2006) A nonparametric test reveals selection for rapid flowering in the Arabidopsis genome. PLoS Biol4: e137

DOI

60
VoightBF, KudaravalliS, WenX, PritchardJK (2006) A map of recent positive selection in the human genome. PLoS Biol4: e72

DOI

61
VonholdtBM, PollingerJP, LohmuellerKE, HanE, ParkerHG, QuignonP, DegenhardtJD, BoykoAR, EarlDA, AutonA (2010) Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature464: 898-902

DOI

62
WeirBS, CockerhamCC (1984) Estimating F-statistics for the analysis of population structure. Evolution38: 1358-1370

DOI

63
WilliamsonSH, HernandezR, Fledel-AlonA, ZhuL, NielsenR, BustamanteCD (2005) Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci USA102: 7882-7887

DOI

64
WoodingS, RogersA (2002) The matrix coalescent and an application to human single-nucleotide polymorphisms. Genetics161: 1641-1650

65
WrightS (1943) Isolation by distance. Genetics28: 114-138

66
WrightSI, CharlesworthB (2004) The HKA test revisited: a maximum-likelihood-ratio test of the standard neutral model. Genetics168: 1071-1076

DOI

67
YangZ (1997) PAML: a program package for phylogenetic analysis by maximum likelihood. Comput Appl Biosci13: 555-556

68
YangZ (1998) Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution. Mol Biol Evol15: 568-573

DOI

69
YangZ (2006) Computational molecular evolution. Oxford University Press, Oxford

DOI

70
YangZ (2007) PAML 4: phylogenetic analysis by maximum likelihood. Mol Biol Evol24: 1586-1591

DOI

71
YangZ, dos ReisM (2011) Statistical properties of the branch-site test of positive selection. Mol Biol Evol28: 1217-1228

DOI

72
YangZ, NielsenR (2002) Codon-substitution models for detecting molecular adaptation at individual sites along specific lineages. Mol Biol Evol19: 908-917

DOI

73
YangZ, NielsenR (2008) Mutation-selection models of codon substitution and their use to estimate selective strengths on codon usage. Mol Biol Evol25: 568-579

DOI

74
YiX, LiangY, Huerta-SanchezE, JinX, CuoZX, PoolJE, XuX, JiangH, VinckenboschN, KorneliussenTS (2010a) Sequencing of 50 human exomes reveals adaptation to high altitude. Science329: 75-78

DOI

75
YiX, LiangY, Huerta-SanchezE, JinX, CuoZX, PoolJE, XuX, JiangH, VinckenboschN, KorneliussenTS (2010b) Sequencing of 50 human exomes reveals adaptation to high altitude. Science329: 75-78

DOI

76
ZhanX, PanS, WangJ, DixonA, HeJ, MullerMG, NiP, HuL, LiuY, HouH (2013) Peregrine and saker falcon genome sequences provide insights into evolution of a predatory lifestyle. Nat Genet45: 563-566

DOI

77
ZhangJ, NielsenR, YangZ (2005) Evaluation of an improved branch-site likelihood method for detecting positive selection at the molecular level. Mol Biol Evol22: 2472-2479

DOI

78
ZhangG, CowledC, ShiZ, HuangZ, Bishop-LillyKA, FangX, WynneJW, XiongZ, BakerML, ZhaoW (2013) Comparative analysis of bat genomes provides insight into the evolution of flight and immunity. Science339: 456-460

DOI

79
ZhaoS, ZhengP, DongS, ZhanX, WuQ, GuoX, HuY, HeW, ZhangS, FanW (2013) Whole-genome sequencing of giant pandas provides insights into demographic history and local adaptation. Nat Genet45: 67-71

DOI

Outlines

/