Genome-scale analysis of demographic history and adaptive selection
Received date: 23 Jul 2013
Accepted date: 04 Nov 2013
Published date: 01 Feb 2014
Copyright
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.
Key words: genomics; demographic history; local adaptation; natural selection
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
|
2 |
AkeyJM, ZhangG, ZhangK, JinL, ShriverMD (2002) Interrogating a high-density SNP map for signatures of natural selection. Genome Res12: 1805-1814
|
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
|
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
|
5 |
BeaumontMA (2010) Approximate Bayesian computation in evolution and ecology. Annu Rev Ecol Evol Syst41: 379-406
|
6 |
BecquetC, PrzeworskiM (2007) A new approach to estimate parameters of speciation models with application to apes. Genome Res17: 1505-1519
|
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
|
8 |
ClarkAG, GlanowskiS, NielsenR, ThomasPD, KejariwalA, ToddMA, TanenbaumDM, CivelloD, LuF, MurphyB
|
9 |
CockerhamCC, WeirBS (1993) Estimation of gene flow from F-statistics. Evolution47: 855-863
|
10 |
CrisciJL, PohY, BeanA, SimkinA, JensenJD (2012) Recent progress in polymorphism-based population genetic inference. J Hered103: 287-296
|
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
|
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
|
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
|
18 |
GrossmanSR, ShlyakhterI, KarlssonEK, ByrneEH, MoralesS, FriedenG, HostetterE, AngelinoE, GarberM, ZukO
|
19 |
GrossmanSR, AndersenKG, ShlyakhterI, TabriziS, WinnickiS, YenA, ParkDJ, GriesemerD, KarlssonEK, WongSH
|
20 |
GutenkunstRN, HernandezRD, WilliamsonSH, BustamanteCD (2009) Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet5: e1000695
|
21 |
HakenH (1983) Synergetics. Springer, Berlin
|
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
|
24 |
HeyJ (2010) Isolation with migration models for more than two populations. Mol Biol Evol27: 905-920
|
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
|
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
|
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
|
29 |
International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature409: 860-921
|
30 |
KimuraM (1955) Solution of a process of random genetic drift with a continuous model. Proc Natl Acad Sci USA41: 144-150
|
31 |
KimuraM (1968) Evolutionary rate at the molecular level. Nature217: 624-626
|
32 |
KosiolC, VinarT, da FonsecaRR, HubiszMJ, BustamanteCD, NielsenR, SiepelA (2008) Patterns of positive selection in six Mammalian genomes. PLoS Genet4: e1000144
|
33 |
KreitmanM, AkashiH (1995) Molecular evidence for natural selection. Annu Rev Ecol Syst26: 403-422
|
34 |
LamHM, XuX, LiuX, ChenW, YangG, WongFL, LiMW, HeW, QinN, WangB
|
35 |
LiH, DurbinR (2011) Inference of human population history from individual whole-genome sequences. Nature475: 493-496
|
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
|
37 |
LopesJS, BaldingD, BeaumontMA (2009) PopABC: a program to infer historical demographic parameters. Bioinformatics25: 2747-2749
|
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
|
40 |
McVeanGA, CardinNJ (2005) Approximating the coalescent with recombination. Philos Trans R Soc Lond B Biol Sci360: 1387-1393
|
41 |
MillerW, SchusterSC, WelchAJ, RatanA, Bedoya-ReinaOC, ZhaoF, KimHL, BurhansRC, DrautzDI, WittekindtNE
|
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
|
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
|
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
|
48 |
NielsenR, HellmannI, HubiszM, BustamanteC, ClarkAG (2007) Recent and ongoing selection in the human genome. Nat Rev Genet8: 857-868
|
49 |
OhtaT (1992) The nearly neutral theory of molecular evolution. Annu Rev Ecol Syst23: 263-286
|
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
|
51 |
RubinCJ, ZodyMC, ErikssonJ, MeadowsJR, SherwoodE, WebsterMT, JiangL, IngmanM, SharpeT, KaS
|
52 |
SabetiPC, ReichDE, HigginsJM, LevineHZ, RichterDJ, SchaffnerSF, GabrielSB, PlatkoJV, PattersonNJ, McDonaldGJ
|
53 |
SabetiPC, SchaffnerSF, FryB, LohmuellerJ, VarillyP, ShamovskyO, PalmaA, MikkelsenTS, AltshulerD, LanderES (2006) Positive natural selection in the human lineage. Science312: 1614-1620
|
54 |
SabetiPC, VarillyP, FryB, LohmuellerJ, HostetterE, CotsapasC, XieX, ByrneEH, McCarrollSA, GaudetR
|
55 |
SimonsonTS, YangY, HuffCD, YunH, QinG, WitherspoonDJ, BaiZ, LorenzoFR, XingJ, JordeLB
|
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
|
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
|
60 |
VoightBF, KudaravalliS, WenX, PritchardJK (2006) A map of recent positive selection in the human genome. PLoS Biol4: e72
|
61 |
VonholdtBM, PollingerJP, LohmuellerKE, HanE, ParkerHG, QuignonP, DegenhardtJD, BoykoAR, EarlDA, AutonA
|
62 |
WeirBS, CockerhamCC (1984) Estimating F-statistics for the analysis of population structure. Evolution38: 1358-1370
|
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
|
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
|
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
|
69 |
YangZ (2006) Computational molecular evolution. Oxford University Press, Oxford
|
70 |
YangZ (2007) PAML 4: phylogenetic analysis by maximum likelihood. Mol Biol Evol24: 1586-1591
|
71 |
YangZ, dos ReisM (2011) Statistical properties of the branch-site test of positive selection. Mol Biol Evol28: 1217-1228
|
72 |
YangZ, NielsenR (2002) Codon-substitution models for detecting molecular adaptation at individual sites along specific lineages. Mol Biol Evol19: 908-917
|
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
|
74 |
YiX, LiangY, Huerta-SanchezE, JinX, CuoZX, PoolJE, XuX, JiangH, VinckenboschN, KorneliussenTS
|
75 |
YiX, LiangY, Huerta-SanchezE, JinX, CuoZX, PoolJE, XuX, JiangH, VinckenboschN, KorneliussenTS
|
76 |
ZhanX, PanS, WangJ, DixonA, HeJ, MullerMG, NiP, HuL, LiuY, HouH
|
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
|
78 |
ZhangG, CowledC, ShiZ, HuangZ, Bishop-LillyKA, FangX, WynneJW, XiongZ, BakerML, ZhaoW
|
79 |
ZhaoS, ZhengP, DongS, ZhanX, WuQ, GuoX, HuY, HeW, ZhangS, FanW
|
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