Genetic diversity of the African malaria vector Anopheles gambiae (original) (raw)
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References
- Hemingway, J. et al. Averting a malaria disaster: will insecticide resistance derail malaria control? Lancet 387, 1785–1788 (2016)
Article PubMed PubMed Central Google Scholar - Bhatt, S. et al. The effect of malaria control on Plasmodium falciparum in Africa between 2000 and 2015. Nature 526, 207–211 (2015)
Article ADS CAS PubMed PubMed Central Google Scholar - della Torre, A. et al. Molecular evidence of incipient speciation within Anopheles gambiae s.s. in West Africa. Insect Mol. Biol. 10, 9–18 (2001)
Article CAS PubMed Google Scholar - Lawniczak, M. K. N. et al. Widespread divergence between incipient Anopheles gambiae species revealed by whole genome sequences. Science 330, 512–514 (2010)
Article ADS CAS PubMed PubMed Central Google Scholar - Tene Fossog, B. et al. Habitat segregation and ecological character displacement in cryptic African malaria mosquitoes. Evol. Appl. 8, 326–346 (2015)
Article PubMed PubMed Central Google Scholar - Diabaté, A. et al. Larval development of the molecular forms of Anopheles gambiae (Diptera: Culicidae) in different habitats: a transplantation experiment. J. Med. Entomol. 42, 548–553 (2005)
Article PubMed Google Scholar - Gimonneau, G. et al. A behavioral mechanism underlying ecological divergence in the malaria mosquito Anopheles gambiae. Behav. Ecol. 21, 1087–1092 (2010)
Article PubMed PubMed Central Google Scholar - Dao, A. et al. Signatures of aestivation and migration in Sahelian malaria mosquito populations. Nature 516, 387–390 (2014)
Article ADS CAS PubMed PubMed Central Google Scholar - Leffler, E. M. et al. Revisiting an old riddle: what determines genetic diversity levels within species? PLoS Biol. 10, e1001388 (2012)
Article CAS PubMed PubMed Central Google Scholar - Hammond, A. et al. A CRISPR–Cas9 gene drive system targeting female reproduction in the malaria mosquito vector Anopheles gambiae. Nat. Biotechnol. 34, 78–83 (2016)
Article CAS PubMed Google Scholar - Lehmann, T. et al. The Rift Valley complex as a barrier to gene flow for Anopheles gambiae in Kenya. J. Hered. 90, 613–621 (1999)
Article CAS PubMed Google Scholar - Lehmann, T. et al. Population structure of Anopheles gambiae in Africa. J. Hered. 94, 133–147 (2003)
Article CAS PubMed Google Scholar - Slotman, M. A. et al. Evidence for subdivision within the M molecular form of Anopheles gambiae. Mol. Ecol. 16, 639–649 (2007)
Article CAS PubMed Google Scholar - Pinto, J. et al. Geographic population structure of the African malaria vector Anopheles gambiae suggests a role for the forest–savannah biome transition as a barrier to gene flow. Evol. Appl. 6, 910–924 (2013)
Article CAS PubMed PubMed Central Google Scholar - Cruickshank, T. E. & Hahn, M. W. Reanalysis suggests that genomic islands of speciation are due to reduced diversity, not reduced gene flow. Mol. Ecol. 23, 3133–3157 (2014)
Article PubMed Google Scholar - Service, M. W. Mosquito (Diptera: Culicidae) dispersal—the long and short of it. J. Med. Entomol. 34, 579–588 (1997)
Article CAS PubMed Google Scholar - Lee, Y. et al. Spatiotemporal dynamics of gene flow and hybrid fitness between the M and S forms of the malaria mosquito, Anopheles gambiae. Proc. Natl Acad. Sci. USA 110, 19854–19859 (2013)
Article ADS CAS PubMed PubMed Central Google Scholar - Neafsey, D. E. et al. SNP genotyping defines complex gene-flow boundaries among African malaria vector mosquitoes. Science 330, 514–517 (2010)
Article ADS CAS PubMed PubMed Central Google Scholar - Clarkson, C. S. et al. Adaptive introgression between Anopheles sibling species eliminates a major genomic island but not reproductive isolation. Nat. Commun. 5, 4248 (2014)
Article ADS CAS PubMed Google Scholar - Norris, L. C. et al. Adaptive introgression in an African malaria mosquito coincident with the increased usage of insecticide-treated bed nets. Proc. Natl Acad. Sci. USA 112, 815–820 (2015)
Article ADS CAS PubMed PubMed Central Google Scholar - Vicente, J. L. et al. Massive introgression drives species radiation at the range limit of Anopheles gambiae. Sci. Rep. 7, 46451 (2017)
Article ADS CAS PubMed PubMed Central Google Scholar - Nwakanma, D. C. et al. Breakdown in the process of incipient speciation in Anopheles gambiae. Genetics 193, 1221–1231 (2013)
Article PubMed PubMed Central Google Scholar - Li, S ., Schlebusch, C. & Jakobsson, M. Genetic variation reveals large-scale population expansion and migration during the expansion of Bantu-speaking peoples. Proc. R. Soc. Lond. B 281, 20141448 (2014)
Article Google Scholar - Noor, A. M., Amin, A. A., Akhwale, W. S. & Snow, R. W. Increasing coverage and decreasing inequity in insecticide-treated bed net use among rural Kenyan children. PLoS Med. 4, e255 (2007)
Article PubMed PubMed Central Google Scholar - Mwangangi, J. M. et al. Shifts in malaria vector species composition and transmission dynamics along the Kenyan coast over the past 20 years. Malar. J. 12, 13 (2013)
Article PubMed PubMed Central Google Scholar - Davies, T. G. E., Field, L. M., Usherwood, P. N. R. & Williamson, M. S. A comparative study of voltage-gated sodium channels in the Insecta: implications for pyrethroid resistance in Anopheline and other Neopteran species. Insect Mol. Biol. 16, 361–375 (2007)
Article CAS PubMed Google Scholar - Mitchell, S. N. et al. Metabolic and target-site mechanisms combine to confer strong DDT resistance in Anopheles gambiae. PLoS ONE 9, e92662 (2014)
Article ADS CAS PubMed PubMed Central Google Scholar - Edi, C. V. et al. CYP6 P450 enzymes and ACE-1 duplication produce extreme and multiple insecticide resistance in the malaria mosquito Anopheles gambiae. PLoS Genet. 10, e1004236 (2014)
Article CAS PubMed PubMed Central Google Scholar - Jones, C. M. et al. Footprints of positive selection associated with a mutation (N1575Y) in the voltage-gated sodium channel of Anopheles gambiae. Proc. Natl Acad. Sci. USA 109, 6614–6619 (2012)
Article ADS PubMed PubMed Central Google Scholar - Ross, R. Inaugural lecture on the possibility of extirpating malaria from certain localities by a new method. BMJ 2, 1–4 (1899)
Article CAS PubMed PubMed Central Google Scholar - Sharakhova, M. V. et al. Update of the Anopheles gambiae PEST genome assembly. Genome Biol. 8, R5 (2007)
Article CAS PubMed PubMed Central Google Scholar - Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics 25, 1754–1760 (2009)
Article CAS PubMed PubMed Central Google Scholar - DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491–498 (2011)
Article CAS PubMed PubMed Central Google Scholar - Van der Auwera, G. A. et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics 11, 11.10.1–11.10.33 (2013)
Google Scholar - Delaneau, O., Howie, B., Cox, A. J., Zagury, J.-F. & Marchini, J. Haplotype estimation using sequencing reads. Am. J. Hum. Genet. 93, 687–696 (2013)
Article CAS PubMed PubMed Central Google Scholar - Alexander, D. H., Novembre, J. & Lange, K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res. 19, 1655–1664 (2009)
Article CAS PubMed PubMed Central Google Scholar - Patterson, N., Price, A. L. & Reich, D. Population structure and eigenanalysis. PLoS Genet. 2, e190 (2006)
Article CAS PubMed PubMed Central Google Scholar - Kopelman, N. M., Mayzel, J., Jakobsson, M., Rosenberg, N. A. & Mayrose, I. Clumpak: a program for identifying clustering modes and packaging population structure inferences across K. Mol. Ecol. Resour. 15, 1179–1191 (2015)
Article CAS PubMed PubMed Central Google Scholar - Bhatia, G., Patterson, N., Sankararaman, S. & Price, A. L. Estimating and interpreting _F_ST: the impact of rare variants. Genome Res. 23, 1514–1521 (2013)
Article CAS PubMed PubMed Central Google Scholar - Liu, X. & Fu, Y.-X. Exploring population size changes using SNP frequency spectra. Nat. Genet. 47, 555–559 (2015)
Article CAS PubMed PubMed Central Google Scholar - Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H. & Bustamante, C. D. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet. 5, e1000695 (2009)
Article CAS PubMed PubMed Central Google Scholar - Keightley, P. D., Ness, R. W., Halligan, D. L. & Haddrill, P. R. Estimation of the spontaneous mutation rate per nucleotide site in a Drosophila melanogaster full-sib family. Genetics 196, 313–320 (2014)
Article CAS PubMed Google Scholar - Schrider, D. R., Houle, D., Lynch, M. & Hahn, M. W. Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster. Genetics 194, 937–954 (2013)
Article CAS PubMed PubMed Central Google Scholar - Browning, B. L. & Browning, S. R. Detecting identity by descent and estimating genotype error rates in sequence data. Am. J. Hum. Genet. 93, 840–851 (2013)
Article CAS PubMed PubMed Central Google Scholar - Browning, S. R. & Browning, B. L. Accurate non-parametric estimation of recent effective population size from segments of identity by descent. Am. J. Hum. Genet. 97, 404–418 (2015)
Article CAS PubMed PubMed Central Google Scholar - Garud, N. R., Messer, P. W., Buzbas, E. O. & Petrov, D. A. Recent selective sweeps in North American Drosophila melanogaster show signatures of soft sweeps. PLoS Genet. 11, e1005004 (2015)
Article CAS PubMed PubMed Central Google Scholar - Sabeti, P. C. et al. Genome-wide detection and characterization of positive selection in human populations. Nature 449, 913–918 (2007)
Article ADS CAS PubMed PubMed Central Google Scholar - Hunter, J. D. Matplotlib: a 2D graphics environment. Comput. Sci. Eng. 9, 90–95 (2007)
Article Google Scholar - Sayre, R. G . et al. A New Map of Standardized Terrestrial Ecosystems of Africa (American Association of Geographers, 2013)
- Sharakhova, M. V. et al. Genome mapping and characterization of the Anopheles gambiae heterochromatin. BMC Genomics 11, 459 (2010)
Article CAS PubMed PubMed Central Google Scholar
Acknowledgements
The authors would like to thank the staff of the Wellcome Trust Sanger Institute Sample Logistics, Sequencing and Informatics facilities for their contributions. This work was supported by the Wellcome Trust (090770/Z/09/Z; 090532/Z/09/Z; 098051) and Medical Research Council UK and the Department for International Development (DFID) (MR/M006212/1). M.K.N.L. was supported by MRC grant G1100339. S.O.’L. and A.B. were supported by a grant from the Foundation for the National Institutes of Health through the Vector-Based Control of Transmission: Discovery Research (VCTR) program of the Grand Challenges in Global Health initiative of the Bill & Melinda Gates Foundation. D.W., C.S.W., H.D.M. and M.J.D. were supported by Award Numbers U19AI089674 and R01AI082734 from the National Institute of Allergy and Infectious Diseases (NIAID). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIAID or NIH. T.A. was supported by a Sir Henry Wellcome Postdoctoral Fellowship.
Author information
Authors and Affiliations
- Malaria Programme, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK
Alistair Miles, Chris S. Clarkson, Krzysztof Kozak, Richard D. Pearson, Martin J. Donnelly, Mara K. N. Lawniczak, Dominic P. Kwiatkowski, Martin J. Donnelly, Dominic P. Kwiatkowski, Mara K. N. Lawniczak, Martin J. Donnelly, Martin J. Donnelly, Jim Stalker, Eleanor Drury, Daniel Mead, Dushyanth Jyothi, Cinzia Malangone, Rachel Giacomantonio & Dominic P. Kwiatkowski - MRC Centre for Genomics and Global Health, University of Oxford, Oxford, OX3 7BN, UK
Alistair Miles, Nicholas J. Harding, Giordano Bottà, Tiago Antão, Richard D. Pearson, Dominic P. Kwiatkowski, Dominic P. Kwiatkowski, Kirk Rockett, Anna Jeffreys, Christina Hubbart, Kate Rowlands, Paul Vauterin, Ben Jeffery, Ian Wright, Lee Hart, Krzysztof Kluczyński, Victoria Cornelius, Christa Henrichs & Dominic P. Kwiatkowski - Dipartimento di Sanita Pubblica e Malattie Infettive, Istituto Pasteur Italia – Fondazione Cenci Bolognetti, Università di Roma SAPIENZA, Rome, Italy
Giordano Bottà, Beniamino Caputo & Alessandra della Torre - Department of Vector Biology, Liverpool School of Tropical Medicine, Pembroke Place, Liverpool, L3 5QA, UK
Chris S. Clarkson, Tiago Antão, Martin J. Donnelly, Martin J. Donnelly, David Weetman, Craig S. Wilding, Craig S. Wilding, David Weetman, Martin J. Donnelly, David Weetman, Craig S. Wilding, Martin J. Donnelly & Alison T. Isaacs - University of Montana, Missoula, Montana, 59812, USA
Tiago Antão - Department of Genetics, Rutgers University, 604 Alison Road, Piscataway, 08854, New Jersey, USA
Daniel R. Schrider, Andrew D. Kern & Andrew D. Kern - Genome Sequencing and Analysis Program, Broad Institute, 415 Main Street, Cambridge, 02142, Maryland, USA
Seth Redmond & Daniel E. Neafsey - Department of Entomology, Virginia Tech, Blacksburg, 24061, Virginia, USA
Igor Sharakhov & Igor Sharakhov - Laboratory of Ecology, Genetics and Environmental Protection, Tomsk State University, Tomsk, 634050, Russia
Igor Sharakhov & Igor Sharakhov - Department of Biological Sciences, Eck Institute for Global Health, University of Notre Dame, Indiana, 46556, USA
Christina Bergey, Nora J. Besansky, Kyanne R. Rohatgi & Nora J. Besansky - Groningen Institute for Evolutionary Life Sciences (GELIFES), Nijenborgh 7, Groningen, 9747 AG, The Netherlands
Michael C. Fontaine & Michael C. Fontaine - Unité d’Ecologie des Systèmes Vectoriels, Centre International de Recherches Médicales de Franceville, Franceville, Gabon
Diego Ayala & Nohal Elissa - Institut de Recherche pour le Développement (IRD), UMR MIVEGEC (UM1, UM2, Montpellier, CNRS 5290, IRD 224, France
Diego Ayala & Carlo Costantini - Department of Life Sciences, Imperial College, Silwood Park, Ascot, Berkshire, SL5 7PY, UK
Austin Burt, Samantha O’Loughlin, Samantha O’Loughlin & Austin Burt - Department of Zoology, University of Oxford, The Tinbergen Building, South Parks Road, Oxford, OX1 3PS, UK
H. Charles J. Godfray - Department of Biology and School of Informatics and Computing, Indiana University, Bloomington, Indiana, 47405, USA
Matthew W. Hahn - KEMRI-Wellcome Trust Research Programme, PO Box 230, Bofa Road, Kilifi, Kenya
Janet Midega, Janet Midega, Charles Mbogo & Philip Bejon - Global Health and Tropical Medicine, GHTM, Instituto de Higiene e Medicina Tropical, IHMT, Universidade Nova de Lisboa, UNL, Rua da Junqueira 100, Lisbon, 1349-008, Portugal
João Pinto, João Pinto, João Pinto & João Pinto - Department of Microbiology and Immunology, Microbial and Plant Genomics Institute, University of Minnesota, St Paul, 55108, Minnesota, USA
Michelle M. Riehle & Michelle M. Riehle - Unit for Genetics and Genomics of Insect Vectors, Institut Pasteur, Paris, France
Kenneth D. Vernick & Kenneth D. Vernick - School of Natural Sciences and Psychology, Liverpool John Moores University, Liverpool, L3 3AF, UK
Craig S. Wilding, Craig S. Wilding & Craig S. Wilding - Department of Entomology, University of California, Riverside, California, USA
Bradley J. White - Programa Nacional de Controle da Malária, Direcção Nacional de Saúde Pública, Ministério da Saúde, Luanda, Angola
Arlete D. Troco - Institut de Recherche en Sciences de la Santé (IRSS), Bobo Dioulasso, Burkina Faso
Abdoulaye Diabaté - Laboratoire de Recherche sur le Paludisme, Organisation de Coordination pour la lutte contre les Endémies en Afrique Centrale (OCEAC), Yaoundé, Cameroon
Carlo Costantini - Malaria Research and Training Centre (MRTC), University of Bamako, Bamako, Mali
Boubacar Coulibaly - Instituto Nacional de Saúde Pública, Ministério da Saúde Pública, Bissau, Guiné-Bissau
João Dinis - Infectious Diseases Research Collaboration, 2C Nakasero Hill Road, PO Box, Kampala, 7475, Uganda
Henry D. Mawejje - The Broad Institute of Massachusetts Institute of Technology and Harvard, 415 Main Street, Cambridge, 02142, Massachusetts, USA
Bronwyn MacInnis
Consortia
The Anopheles gambiae 1000 Genomes Consortium
Data analysis group
- Alistair Miles
- , Nicholas J. Harding
- , Giordano Bottà
- , Chris S. Clarkson
- , Tiago Antão
- , Krzysztof Kozak
- , Daniel R. Schrider
- , Andrew D. Kern
- , Seth Redmond
- , Igor Sharakhov
- , Richard D. Pearson
- , Christina Bergey
- , Michael C. Fontaine
- , Martin J. Donnelly
- , Mara K. N. Lawniczak
- & Dominic P. Kwiatkowski
Partner working group
- Martin J. Donnelly
- , Diego Ayala
- , Nora J. Besansky
- , Austin Burt
- , Beniamino Caputo
- , Alessandra della Torre
- , Michael C. Fontaine
- , H. Charles J. Godfray
- , Matthew W. Hahn
- , Andrew D. Kern
- , Dominic P. Kwiatkowski
- , Mara K. N. Lawniczak
- , Janet Midega
- , Daniel E. Neafsey
- , Samantha O’Loughlin
- , João Pinto
- , Michelle M. Riehle
- , Igor Sharakhov
- , Kenneth D. Vernick
- , David Weetman
- , Craig S. Wilding
- & Bradley J. White
Sample collections—Angola:
- Arlete D. Troco
- & João Pinto
Burkina Faso:
- Abdoulaye Diabaté
- , Samantha O’Loughlin
- & Austin Burt
Cameroon:
- Carlo Costantini
- , Kyanne R. Rohatgi
- & Nora J. Besansky
Gabon:
- Nohal Elissa
- & João Pinto
Guinea:
- Boubacar Coulibaly
- , Michelle M. Riehle
- & Kenneth D. Vernick
Guinea-Bissau:
- João Pinto
- & João Dinis
Kenya:
- Janet Midega
- , Charles Mbogo
- & Philip Bejon
Uganda:
- Craig S. Wilding
- , David Weetman
- , Henry D. Mawejje
- & Martin J. Donnelly
Crosses:
- David Weetman
- , Craig S. Wilding
- & Martin J. Donnelly
Sequencing and data production
- Jim Stalker
- , Kirk Rockett
- , Eleanor Drury
- , Daniel Mead
- , Anna Jeffreys
- , Christina Hubbart
- , Kate Rowlands
- , Alison T. Isaacs
- , Dushyanth Jyothi
- & Cinzia Malangone
Web application development
- Paul Vauterin
- , Ben Jeffery
- , Ian Wright
- , Lee Hart
- & Krzysztof Kluczyński
Project coordination
- Victoria Cornelius
- , Bronwyn MacInnis
- , Christa Henrichs
- , Rachel Giacomantonio
- & Dominic P. Kwiatkowski
Contributions
Details of author contributions are given in the consortium author list.
Corresponding authors
Correspondence toAlistair Miles, Martin J. Donnelly, Mara K. N. Lawniczak or Dominic P. Kwiatkowski.
Ethics declarations
Competing interests
The author declare no competing financial interests.
Additional information
Reviewer Information Nature thanks J. Pool and the other anonymous reviewer(s) for their contribution to the peer review of this work.
Publisher's note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Extended data figures and tables
Extended Data Figure 1 Overview of population sampling.
Red circles show sampling locations for wild-caught mosquitoes. Colours in the map represent ecosystem classes; dark green represents forest ecosystems; see figure 9 in ref. 49 for a complete colour legend. The Congo Basin tropical rainforest is the large region of dark green in Central Africa. Sampling details for each site are shown in light grey boxes, including country (two-letter country code), location and year of collection, predominant ecosystem classification for the local region, and number and sex of individuals sequenced. For colony crosses, the direction of cross (colony of origin of mother and father) and number of offspring is shown. The inset map depicts geological fault lines in the East African rift system (http://pubs.usgs.gov/publications/text/East_Africa.html). Species assignment for Guinea-Bissau and Kenya specimens is uncertain, see main text. Sequencing depth per individual is shown as median (5th–95th percentile) for each population.
Extended Data Figure 2 Genome accessibility and haplotype validation.
a, Percentage of accessible bases in non-overlapping 400-kb windows. The schematic of chromosomes below shows chromatin state predictions from ref. 50. b, Haplotypes inferred in the crosses. Each panel shows either maternal or paternal haplotypes from a single cross. Each row within a panel represents a single progeny haplotype. Haplotypes are coloured by parental inheritance (blue denotes allele from parent’s first chromosome; red denotes allele from parent’s second chromosome). Switches between colours along a haplotype indicate recombination events. Regions that were within a run of homozygosity in the parent and thus not informative for haplotype validation are masked in grey. c, Error rate estimates for haplotypes inferred in wild-caught individuals. Top plots show estimates for the mean switch distance (red line), compared to the mean switch distance if heterozygotes were phased randomly (black line). Bottom plots show the switch error rate (probability of a switch error occurring between two adjacent heterozygous genotype calls).
Extended Data Figure 3 Variant discovery and nucleotide diversity.
a, Number of variant alleles discovered per individual mosquito. Only females are plotted. b, Genetic diversity within populations. Nucleotide diversity (π) and Tajima’s D were calculated in non-overlapping 20-kb genomic windows. SNP density depicts the distribution of allele frequencies (site frequency spectrum) for each population, scaled such that a population with constant size over time is expected to have a constant SNP density over all allele frequencies. c, Average nucleotide diversity (π) and ratio of diversity between sex-linked (X) and autosomal (A) chromosomes in relation to gene architecture. d, Relationship between number of individuals sampled and the cumulative number of variant sites discovered (left), availability of conserved Cas9 target sites within genes (centre), and number of genes containing at least 1 conserved Cas9 target site which could thus be ‘targetable’ for gene drive (right).
Extended Data Figure 4 ADMIXTURE analysis.
a, Ancestry proportions within individual mosquitoes for ADMIXTURE models from K = 2 to K = 10 ancestral populations. Each vertical bar represents the proportion of ancestry within a single individual, with colours corresponding to ancestral populations. These data are the average of the major _q_-matrix clusters derived by CLUMPAK analysis. b, Violin plot of cross-validation error for each of 100 replicates for each K value.
Extended Data Figure 5 Population structure and differentiation.
a, Principal components analysis of the 765 wild-caught mosquitoes. b, Average allele frequency differentiation (_F_ST) between pairs of populations. The bottom left triangle shows average _F_ST values between each population pair. The top right triangle shows the Z score for each _F_ST value estimated via a block-jackknife procedure39. CM* denotes Cameroon savannah sampling site only. c, Allele sharing in doubleton (_f_2) variants. The height of the coloured bars represent the probability of sharing a doubleton allele between two populations. Heights are normalized row-wise for each population.
Extended Data Figure 6 Ancestry informative markers.
Rows represent individual mosquitoes (grouped by population) and columns represent SNPs (grouped by chromosome arm). Colours represent species genotype. The column at the far left shows the species assignment according to the conventional molecular test based on a single marker on the X chromosome, which was performed for all individuals except Kenya (KE). The column at the far right shows the genotype for kdr variants in Vgsc codon 995. Lines at the lower edge show the physical locations of the AIM SNPs.
Extended Data Figure 7 Population size history.
a, Stairway plot of inferred histories for each population. The shaded area shows the 95% confidence interval from 199 bootstrap replicates. b, Inferred histories from three-epoch ∂a∂i models41. The thick line shows the history with the highest likelihood found by optimization; thin lines show 100 histories with the highest likelihoods from even sampling of the model parameter space. c, Inferred histories from ∂a∂i two-population models allowing for migration. For each population pair, solutions from 5 optimization runs with the highest likelihoods are shown, with the thick line showing the history with the highest likelihood. In all panels, time and _N_e are scaled assuming 11 generations per year and a mutation rate of μ = 3.5 × 10−9. Scaling of time and _N_e is proportional to 1/μ, for example, if the true mutation rate is twice as high then estimates of time and _N_e would be halved. ya, years ago.
Extended Data Figure 8 Identity by descent and recent effective population size history.
a, Patterns of IBD sharing within populations. Each marker represents a pair of individuals. b, The distribution of IBD tract lengths within populations. c, Recent population size history for the Kenyan population inferred by the IBDNe program45. d, Comparison of the IBD tract length distribution between Kenya and four simulated demographic scenarios. e, Population size histories inferred by IBDNe (red dashed lines) from data generated by simulations (black line shows the simulated population size history). f, Comparison of patterns of IBD sharing generated by simulations (black contour lines) with Kenyan data (filled blue contours). See Supplementary Information 8.4 for details of simulations. ga, generations ago.
Extended Data Figure 9 Genome scans for signatures of recent selection.
a, Haplotype diversity. Each track plots the H12 statistic in non-overlapping windows over the genome. A value of 1 indicates low haplotype diversity within a window, expected if one or two haplotypes have risen to high frequency owing to recent selection. A value of 0 indicates high haplotype diversity, expected in neutral regions. b, XP-EHH scans. For each population comparison (for example, BF gambiae versus BF coluzzii), positive scores indicate longer haplotypes and therefore recent selection in the first population (for example, BF gambiae), and negative scores indicate selection in the second population (for example, BF coluzzii).
Extended Data Figure 10 Haplotype structure at metabolic insecticide-resistance loci.
Plot components are as described for Fig. 4. For both loci, SNPs shown in the bottom panel are all either non-synonymous or splice site variants, and are associated with one or more haplotypes under selection. a, Haplotype clustering using 1,375 SNPs within the region 3R: 28,591,663–28,602,280 spanning 8 genes (Gste1_–_Gste8). b, Haplotype clustering using 1,844 SNPs within the region 2R: 28,491,415–28,502,910 spanning 5 genes (Cyp6p1_–_Cyp6p5).
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The Anopheles gambiae 1000 Genomes Consortium. Genetic diversity of the African malaria vector Anopheles gambiae.Nature 552, 96–100 (2017). https://doi.org/10.1038/nature24995
- Received: 22 December 2016
- Accepted: 01 November 2017
- Published: 29 November 2017
- Issue date: 07 December 2017
- DOI: https://doi.org/10.1038/nature24995