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5. Selection leads to false inferences of introgression using popular methods.

Author

Smith, Megan L and Hahn, Matthew W

Subjects
*BIOLOGICAL evolution, *GENOMICS, *RESEARCH funding, *PHYLOGENY, *DESCRIPTIVE statistics, *GENETIC variation, *GENETIC mutation, *ALLELES
Abstract

Detecting introgression between closely related populations or species is a fundamental objective in evolutionary biology. Existing methods for detecting migration and inferring migration rates from population genetic data often assume a neutral model of evolution. Growing evidence of the pervasive impact of selection on large portions of the genome across diverse taxa suggests that this assumption is unrealistic in most empirical systems. Further, ignoring selection has previously been shown to negatively impact demographic inferences (e.g. of population size histories). However, the impacts of biologically realistic selection on inferences of migration remain poorly explored. Here, we simulate data under models of background selection, selective sweeps, balancing selection, and adaptive introgression. We show that ignoring selection sometimes leads to false inferences of migration in popularly used methods that rely on the site frequency spectrum. Specifically, balancing selection and some models of background selection result in the rejection of isolation-only models in favor of isolation-with-migration models and lead to elevated estimates of migration rates. BPP, a method that analyzes sequence data directly, showed false positives for all conditions at recent divergence times, but balancing selection also led to false positives at medium-divergence times. Our results suggest that such methods may be unreliable in some empirical systems, such that new methods that are robust to selection need to be developed. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Author Correction: Comparative and demographic analysis of orang-utan genomes

Author

Locke, Devin P., Hillier, LaDeana W., Warren, Wesley C., Worley, Kim C., Nazareth, Lynne V., Muzny, Donna M., Yang, Shiaw-Pyng, Wang, Zhengyuan, Chinwalla, Asif T., Minx, Pat, Mitreva, Makedonka, Cook, Lisa, Delehaunty, Kim D., Fronick, Catrina, Schmidt, Heather, Fulton, Lucinda A., Fulton, Robert S., Nelson, Joanne O., Magrini, Vincent, Pohl, Craig, Graves, Tina A., Markovic, Chris, Cree, Andy, Dinh, Huyen H., Hume, Jennifer, Kovar, Christie L., Fowler, Gerald R., Lunter, Gerton, Meader, Stephen, Heger, Andreas, Ponting, Chris P., Marques-Bonet, Tomas, Alkan, Can, Chen, Lin, Cheng, Ze, Kidd, Jeffrey M., Eichler, Evan E., White, Simon, Searle, Stephen, Vilella, Albert J., Chen, Yuan, Flicek, Paul, Ma, Jian, Raney, Brian, Suh, Bernard, Burhans, Richard, Herrero, Javier, Haussler, David, Faria, Rui, Fernando, Olga, Darré, Fleur, Farré, Domènec, Gazave, Elodie, Oliva, Meritxell, Navarro, Arcadi, Roberto, Roberta, Capozzi, Oronzo, Archidiacono, Nicoletta, Della Valle, Giuliano, Purgato, Stefania, Rocchi, Mariano, Konkel, Miriam K., Walker, Jerilyn A., Ullmer, Brygg, Batzer, Mark A., Smit, Arian F. A., Hubley, Robert, Casola, Claudio, Schrider, Daniel R., Hahn, Matthew W., Quesada, Victor, Puente, Xose S., Ordoñez, Gonzalo R., López-Otín, Carlos, Vinar, Tomas, Brejova, Brona, Ratan, Aakrosh, Harris, Robert S., Miller, Webb, Kosiol, Carolin, Lawson, Heather A., Taliwal, Vikas, Martins, André L., Siepel, Adam, RoyChoudhury, Arindam, Ma, Xin, Degenhardt, Jeremiah, Bustamante, Carlos D., Gutenkunst, Ryan N., Mailund, Thomas, Dutheil, Julien Y., Hobolth, Asger, Schierup, Mikkel H., Ryder, Oliver A., Yoshinaga, Yuko, de Jong, Pieter J., Weinstock, George M., Rogers, Jeffrey, Mardis, Elaine R., Gibbs, Richard A., and Wilson, Richard K.

Published
2022
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9. MAST: Phylogenetic Inference with Mixtures Across Sites and Trees.

Author

Wong, Thomas K F, Cherryh, Caitlin, Rodrigo, Allen G, Hahn, Matthew W, Minh, Bui Quang, and Lanfear, Robert

Subjects
HORIZONTAL gene transfer, HOMINIDS, TREES, INFERENTIAL statistics, AIRBORNE lasers
Abstract

Hundreds or thousands of loci are now routinely used in modern phylogenomic studies. Concatenation approaches to tree inference assume that there is a single topology for the entire dataset, but different loci may have different evolutionary histories due to incomplete lineage sorting (ILS), introgression, and/or horizontal gene transfer; even single loci may not be treelike due to recombination. To overcome this shortcoming, we introduce an implementation of a multi-tree mixture model that we call mixtures across sites and trees (MAST). This model extends a prior implementation by Boussau et al. (2009) by allowing users to estimate the weight of each of a set of pre-specified bifurcating trees in a single alignment. The MAST model allows each tree to have its own weight, topology, branch lengths, substitution model, nucleotide or amino acid frequencies, and model of rate heterogeneity across sites. We implemented the MAST model in a maximum-likelihood framework in the popular phylogenetic software, IQ-TREE. Simulations show that we can accurately recover the true model parameters, including branch lengths and tree weights for a given set of tree topologies, under a wide range of biologically realistic scenarios. We also show that we can use standard statistical inference approaches to reject a single-tree model when data are simulated under multiple trees (and vice versa). We applied the MAST model to multiple primate datasets and found that it can recover the signal of ILS in the Great Apes, as well as the asymmetry in minor trees caused by introgression among several macaque species. When applied to a dataset of 4 Platyrrhine species for which standard concatenated maximum likelihood (ML) and gene tree approaches disagree, we observe that MAST gives the highest weight (i.e. the largest proportion of sites) to the tree also supported by gene tree approaches. These results suggest that the MAST model is able to analyze a concatenated alignment using ML while avoiding some of the biases that come with assuming there is only a single tree. We discuss how the MAST model can be extended in the future. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Gene content evolution in the arthropods

Author

Thomas, Gregg W. C., Dohmen, Elias, Hughes, Daniel S. T., Murali, Shwetha C., Poelchau, Monica, Glastad, Karl, Anstead, Clare A., Ayoub, Nadia A., Batterham, Phillip, Bellair, Michelle, Binford, Greta J., Chao, Hsu, Chen, Yolanda H., Childers, Christopher, Dinh, Huyen, Doddapaneni, Harsha Vardhan, Duan, Jian J., Dugan, Shannon, Esposito, Lauren A., Friedrich, Markus, Garb, Jessica, Gasser, Robin B., Goodisman, Michael A. D., Gundersen-Rindal, Dawn E., Han, Yi, Handler, Alfred M., Hatakeyama, Masatsugu, Hering, Lars, Hunter, Wayne B., Ioannidis, Panagiotis, Jayaseelan, Joy C., Kalra, Divya, Khila, Abderrahman, Korhonen, Pasi K., Lee, Carol Eunmi, Lee, Sandra L., Li, Yiyuan, Lindsey, Amelia R. I., Mayer, Georg, McGregor, Alistair P., McKenna, Duane D., Misof, Bernhard, Munidasa, Mala, Munoz-Torres, Monica, Muzny, Donna M., Niehuis, Oliver, Osuji-Lacy, Nkechinyere, Palli, Subba R., Panfilio, Kristen A., Pechmann, Matthias, Perry, Trent, Peters, Ralph S., Poynton, Helen C., Prpic, Nikola-Michael, Qu, Jiaxin, Rotenberg, Dorith, Schal, Coby, Schoville, Sean D., Scully, Erin D., Skinner, Evette, Sloan, Daniel B., Stouthamer, Richard, Strand, Michael R., Szucsich, Nikolaus U., Wijeratne, Asela, Young, Neil D., Zattara, Eduardo E., Benoit, Joshua B., Zdobnov, Evgeny M., Pfrender, Michael E., Hackett, Kevin J., Werren, John H., Worley, Kim C., Gibbs, Richard A., Chipman, Ariel D., Waterhouse, Robert M., Bornberg-Bauer, Erich, Hahn, Matthew W., and Richards, Stephen

Published
2020
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18. Evolutionary superscaffolding and chromosome anchoring to improve Anopheles genome assemblies

Author

Waterhouse, Robert M., Aganezov, Sergey, Anselmetti, Yoann, Lee, Jiyoung, Ruzzante, Livio, Reijnders, Maarten J. M. F., Feron, Romain, Bérard, Sèverine, George, Phillip, Hahn, Matthew W., Howell, Paul I., Kamali, Maryam, Koren, Sergey, Lawson, Daniel, Maslen, Gareth, Peery, Ashley, Phillippy, Adam M., Sharakhova, Maria V., Tannier, Eric, Unger, Maria F., Zhang, Simo V., Alekseyev, Max A., Besansky, Nora J., Chauve, Cedric, Emrich, Scott J., and Sharakhov, Igor V.

Published
2020
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19. Searching and visualizing genetic associations of pregnancy traits by using GnuMoM2b

Author

Yan, Qi, Guerrero, Rafael F., Khan, Raiyan R., Surujnarine, Andy A., Wapner, Ronald J., Hahn, Matthew W., Raja, Anita, SallebAouissi, Ansaf, Grobman, William A., Simhan, Hyagriv, Blue, Nathan R., Silver, Robert, Chung, Judith H., Reddy, Uma M., Radivojac, Predrag, Pe’er, Itsik, and Haas, David M.

Subjects
Article
Abstract

Adverse pregnancy outcomes (APOs) are major risk factors for women’s health during pregnancy and even in the years after pregnancy. Due to the heterogeneity of APOs, only few genetic associations have been identified. In this report, we conducted genome-wide association studies (GWAS) of 479 traits that are possibly related to APOs using a large and racially diverse study, Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b). To display the extensive results, we developed a web-based tool GnuMoM2b ( https://gnumom2b.cumcobgyn.org/ ) for searching, visualizing, and sharing results from GWAS of 479 pregnancy traits as well as phenome-wide association studies (PheWAS) of more than 17 million single nucleotide polymorphisms (SNPs). The genetic results from three ancestries (Europeans, Africans, and Admixed Americans) and meta-analyses are populated in GnuMoM2b. In conclusion, GnuMoM2b is a valuable resource for extraction of pregnancy-related genetic results and shows the potential to facilitate meaningful discoveries.

Published
2023

20. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host

Author

Palesch, David, Bosinger, Steven E., Tharp, Gregory K., Vanderford, Thomas H., Paiardini, Mirko, Chahroudi, Ann, Johnson, Zachary P., Kirchhoff, Frank, Hahn, Beatrice H., Norgren, Robert B., Patel, Nirav B., Sodora, Donald L., Dawoud, Reem A., Stewart, Caro-Beth, Seepo, Sara M., Harris, R. Alan, Liu, Yue, Raveendran, Muthuswamy, Han, Yi, English, Adam, Thomas, Gregg W. C., Hahn, Matthew W., Pipes, Lenore, Mason, Christopher E., Muzny, Donna M., Gibbs, Richard A., Sauter, Daniel, Worley, Kim, Rogers, Jeffrey, and Silvestri, Guido

Subjects
Immunity (Physiology) -- Genetic aspects, Sooty mangabey -- Genetic aspects -- Health aspects, Simian immunodeficiency virus -- Health aspects -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): David Palesch [1]; Steven E. Bosinger [1, 2]; Gregory K. Tharp [1]; Thomas H. Vanderford [1]; Mirko Paiardini [1, 2]; Ann Chahroudi [1, 3]; Zachary P. Johnson [1]; Frank [...]

Published
2018
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22. Clonal polymorphism and high heterozygosity in the celibate genome of the Amazon molly

Author

Warren, Wesley C., García-Pérez, Raquel, Xu, Sen, Lampert, Kathrin P., Chalopin, Domitille, Stöck, Matthias, Loewe, Laurence, Lu, Yuan, Kuderna, Lukas, Minx, Patrick, Montague, Michael J., Tomlinson, Chad, Hillier, LaDeana W., Murphy, Daniel N., Wang, John, Wang, Zhongwei, Garcia, Constantino Macias, Thomas, Gregg C. W., Volff, Jean-Nicolas, Farias, Fabiana, Aken, Bronwen, Walter, Ronald B., Pruitt, Kim D., Marques-Bonet, Tomas, Hahn, Matthew W., Kneitz, Susanne, Lynch, Michael, and Schartl, Manfred

Published
2018
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24. Radical remodeling of the Y chromosome in a recent radiation of malaria mosquitoes

Author

Hall, Andrew Brantley, Papathanos, Philippos-Aris, Sharma, Atashi, Cheng, Changde, Akbari, Omar S., Assour, Lauren, Bergman, Nicholas H., Cagnetti, Alessia, Crisanti, Andrea, Dottorini, Tania, Fiorentini, Elisa, Galizi, Roberto, Hnath, Jonathan, Jiang, Xiaofang, Koren, Sergey, Nolan, Tony, Radune, Diane, Sharakhova, Maria V., Steele, Aaron, Timoshevskiy, Vladimir A., Windbichler, Nikolai, Zhang, Simo, Hahn, Matthew W., Phillippy, Adam M., Emrich, Scott J., Sharakhov, Igor V., Tu, Zhijian Jake, and Besansky, Nora J.

Published
2016

27. The 'faulty male' hypothesis for sex-biased mutation and disease.

Author

Hahn, Matthew W., Peña-Garcia, Yadira, and Wang, Richard J.

Subjects
*PUBERTY, *SEX (Biology), *FEMALES, *GENETIC mutation
Abstract

Biological differences between males and females lead to many differences in physiology, disease, and overall health. One of the most prominent disparities is in the number of germline mutations passed to offspring: human males transmit three times as many mutations as do females. While the classic explanation for this pattern invokes differences in post-puberty germline replication between the sexes, recent whole-genome evidence in humans and other mammals has cast doubt on this mechanism. Here, we review recent work that is inconsistent with a replication-driven model of male-biased mutation, and propose an alternative, 'faulty male' hypothesis. This model proposes that males are less able to repair and/or protect DNA from damage compared to females. Importantly, we suggest that this new model for male-biased mutation may also help to explain several pronounced differences between the sexes in cancer, aging, and DNA repair. Although the detailed contributions of genetic, epigenetic, and hormonal influences of biological sex on mutation remain to be fully understood, a reconsideration of the mechanisms underlying these differences will lead to a deeper understanding of evolution and disease. In this Essay, Hahn and colleagues propose that differences in germline mutation rates between the sexes are driven by 'faulty' males — the reduced ability of males to repair and/or protect germline cells from mutation. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Phylogenetic inference using generative adversarial networks.

Author

Smith, Megan L and Hahn, Matthew W

Subjects
*GENERATIVE adversarial networks, *MACHINE learning, *HEURISTIC, *EVOLUTIONARY models
Abstract

Motivation The application of machine learning approaches in phylogenetics has been impeded by the vast model space associated with inference. Supervised machine learning approaches require data from across this space to train models. Because of this, previous approaches have typically been limited to inferring relationships among unrooted quartets of taxa, where there are only three possible topologies. Here, we explore the potential of generative adversarial networks (GANs) to address this limitation. GANs consist of a generator and a discriminator: at each step, the generator aims to create data that is similar to real data, while the discriminator attempts to distinguish generated and real data. By using an evolutionary model as the generator, we use GANs to make evolutionary inferences. Since a new model can be considered at each iteration, heuristic searches of complex model spaces are possible. Thus, GANs offer a potential solution to the challenges of applying machine learning in phylogenetics. Results We developed phyloGAN, a GAN that infers phylogenetic relationships among species. phyloGAN takes as input a concatenated alignment, or a set of gene alignments, and infers a phylogenetic tree either considering or ignoring gene tree heterogeneity. We explored the performance of phyloGAN for up to 15 taxa in the concatenation case and 6 taxa when considering gene tree heterogeneity. Error rates are relatively low in these simple cases. However, run times are slow and performance metrics suggest issues during training. Future work should explore novel architectures that may result in more stable and efficient GANs for phylogenetics. Availability and implementation phyloGAN is available on github: https://github.com/meganlsmith/phyloGAN/. [ABSTRACT FROM AUTHOR]

Published
2023
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30. Extensive introgression in a malaria vector species complex revealed by phylogenomics

Author

Fontaine, Michael C., Pease, James B., Steele, Aaron, Waterhouse, Robert M., Neafsey, Daniel E., Sharakhov, Igor V., Jiang, Xiaofang, Hall, Andrew B., Catteruccia, Flaminia, Kakani, Evdoxia, Mitchell, Sara N., Wu, Yi-Chieh, Smith, Hilary A., Love, R. Rebecca, Lawniczak, Mara K., Slotman, Michel A., Emrich, Scott J., Hahn, Matthew W., and Besansky, Nora J.

Published
2015

32. Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

Author

Montague, Michael J., Li, Gang, Gandolfi, Barbara, Khan, Razib, Aken, Bronwen L., Searle, Steven M. J., Minx, Patrick, Hillier, LaDeana W., Koboldt, Daniel C., Davis, Brian W., Driscoll, Carlos A., Barr, Christina S., Blackistone, Kevin, Quilez, Javier, Lorente-Galdos, Belen, Marques-Bonet, Tomas, Alkan, Can, Thomas, Gregg W. C., Hahn, Matthew W., Menotti-Raymond, Marilyn, O'Brien, Stephen J., Wilson, Richard K., Lyons, Leslie A., Murphy, William J., and Warren, Wesley C.

Published
2014

33. Genetic diversity of the African malaria vector Anopheles gambiae

Author

Miles, Alistair, Harding, Nicholas J., Bottà, Giordano, Clarkson, Chris S., Antão, Tiago, Kozak, Krzysztof, Schrider, Daniel R., Kern, Andrew D., Redmond, Seth, Sharakhov, Igor, Pearson, Richard D., Bergey, Christina, Fontaine, Michael C., Donnelly, Martin J., Lawniczak, Mara K. N., Kwiatkowski, Dominic P., Ayala, Diego, Besansky, Nora J., Burt, Austin, Caputo, Beniamino, della Torre, Alessandra, Godfray, H. Charles J., Hahn, Matthew W., Midega, Janet, Neafsey, Daniel E., O’Loughlin, Samantha, Pinto, João, Riehle, Michelle M., Vernick, Kenneth D., Weetman, David, Wilding, Craig S., White, Bradley J., Troco, Arlete D., Diabaté, Abdoulaye, Costantini, Carlo, Rohatgi, Kyanne R., Elissa, Nohal, Coulibaly, Boubacar, Dinis, João, Mbogo, Charles, Bejon, Philip, Mawejje, Henry D., Stalker, Jim, Rockett, Kirk, Drury, Eleanor, Mead, Daniel, Jeffreys, Anna, Hubbart, Christina, Rowlands, Kate, Isaacs, Alison T., Jyothi, Dushyanth, Malangone, Cinzia, Vauterin, Paul, Jeffery, Ben, Wright, Ian, Hart, Lee, Kluczyński, Krzysztof, Cornelius, Victoria, MacInnis, Bronwyn, Henrichs, Christa, and Giacomantonio, Rachel

Published
2017
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35. Phylogenomic comparative methods: Accurate evolutionary inferences in the presence of gene tree discordance.

Author

Hibbins, Mark S., Breithaupt, Lara C., and Hahn, Matthew W.

Subjects
COMPARATIVE method, TREES, GENES, COMPARATIVE historiography, PHYLOGENY
Abstract

Phylogenetic comparative methods have long been a mainstay of evolutionary biology, allowing for the study of trait evolution across species while accounting for their common ancestry. These analyses typically assume a single, bifurcating phylogenetic tree describing the shared history among species. However, modern phylogenomic analyses have shown that genomes are often composed of mosaic histories that can disagree both with the species tree and with each other--so-called discordant gene trees. These gene trees describe shared histories that are not captured by the species tree, and therefore that are unaccounted for in classic comparative approaches. The application of standard comparative methods to species histories containing discordance leads to incorrect inferences about the timing, direction, and rate of evolution. Here, we develop two approaches for incorporating gene tree histories into comparative methods: one that constructs an updated phylogenetic variance-covariance matrix from gene trees, and another that applies Felsenstein's pruning algorithm over a set of gene trees to calculate trait histories and likelihoods. Using simulation, we demonstrate that our approaches generate much more accurate estimates of tree-wide rates of trait evolution than standard methods. We apply our methods to two clades of the wild tomato genus Solanum with varying rates of discordance, demonstrating the contribution of gene tree discordance to variation in a set of floral traits. Our approaches have the potential to be applied to a broad range of classic inference problems in phylogenetics, including ancestral state reconstruction and the inference of lineage-specific rate shifts. [ABSTRACT FROM AUTHOR]

Published
2023
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36. CAGEE: Computational Analysis of Gene Expression Evolution.

Author

Bertram, Jason, Fulton, Ben, Tourigny, Jason P, Peña-Garcia, Yadira, Moyle, Leonie C, and Hahn, Matthew W

Subjects
GENE expression, INTEGRATED software, SOLANUM, BROWNIAN motion, GENOMES
Abstract

Despite the increasing abundance of whole transcriptome data, few methods are available to analyze global gene expression across phylogenies. Here, we present a new software package (Computational Analysis of Gene Expression Evolution [CAGEE]) for inferring patterns of increases and decreases in gene expression across a phylogenetic tree, as well as the rate at which these changes occur. In contrast to previous methods that treat each gene independently, CAGEE can calculate genome-wide rates of gene expression, along with ancestral states for each gene. The statistical approach developed here makes it possible to infer lineage-specific shifts in rates of evolution across the genome, in addition to possible differences in rates among multiple tissues sampled from the same species. We demonstrate the accuracy and robustness of our method on simulated data and apply it to a data set of ovule gene expression collected from multiple self-compatible and self-incompatible species in the genus Solanum to test hypotheses about the evolutionary forces acting during mating system shifts. These comparisons allow us to highlight the power of CAGEE, demonstrating its utility for use in any empirical system and for the analysis of most morphological traits. Our software is available at https://github.com/hahnlab/CAGEE/. [ABSTRACT FROM AUTHOR]

Published
2023
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38. Molecular Biology and Evolution

Author

Sun, Cheng, Huang, Jiaxing, Wang, Yun, Zhao, Xiaomeng, Su, Long, Thomas, Gregg W C, Zhao, Mengya, Zhang, Xingtan, Jungreis, Irwin, Kellis, Manolis, Vicario, Saverio, Sharakhov, Igor V, Bondarenko, Semen M, Hasselmann, Martin, Kim, Chang N, Paten, Benedict, Penso-Dolfin, Luca, Wang, Li, Chang, Yuxiao, Gao, Qiang, Ma, Ling, Ma, Lina, Zhang, Zhang, Zhang, Hongbo, Zhang, Huahao, Ruzzante, Livio, Robertson, Hugh M, Zhu, Yihui, Liu, Yanjie, Yang, Huipeng, Ding, Lele, Wang, Quangui, Ma, Dongna, Xu, Weilin, Liang, Cheng, Itgen, Michael W, Mee, Lauren, Cao, Gang, Zhang, Ze, Sadd, Ben M, Hahn, Matthew W, Schaack, Sarah, Barribeau, Seth M, Williams, Paul H, Waterhouse, Robert M, Mueller, Rachel Lockridge, and Entomology

Subjects
gene family evolution, Biochemistry & Molecular Biology, Adaptation, Biological/genetics, Animals, Bees/genetics, Biological Evolution, Codon Usage, DNA Transposable Elements, Diet, Feeding Behavior, Gene Components, Genome Size, Genome, Insect, Selection, Genetic, Bombus, genome assembly, genome evolution, insect diversity, Adaptation, Biological, 0601 Biochemistry and Cell Biology, AcademicSubjects/SCI01180, 0603 Evolutionary Biology, Discoveries, Genetics & Heredity, Evolutionary Biology, 0604 Genetics, Errata, AcademicSubjects/SCI01130, Bees, Life Sciences & Biomedicine
Abstract

Bumblebees are a diverse group of globally important pollinators in natural ecosystems and for agricultural food production. With both eusocial and solitary life-cycle phases, and some social parasite species, they are especially interesting models to understand social evolution, behavior, and ecology. Reports of many species in decline point to pathogen transmission, habitat loss, pesticide usage, and global climate change, as interconnected causes. These threats to bumblebee diversity make our reliance on a handful of well-studied species for agricultural pollination particularly precarious. To broadly sample bumblebee genomic and phenotypic diversity, we de novo sequenced and assembled the genomes of 17 species, representing all 15 subgenera, producing the first genus-wide quantification of genetic and genomic variation potentially underlying key ecological and behavioral traits. The species phylogeny resolves subgenera relationships, whereas incomplete lineage sorting likely drives high levels of gene tree discordance. Five chromosome-level assemblies show a stable 18-chromosome karyotype, with major rearrangements creating 25 chromosomes in social parasites. Differential transposable element activity drives changes in genome sizes, with putative domestications of repetitive sequences influencing gene coding and regulatory potential. Dynamically evolving gene families and signatures of positive selection point to genus-wide variation in processes linked to foraging, diet and metabolism, immunity and detoxification, as well as adaptations for life at high altitudes. Our study reveals how bumblebee genes and genomes have evolved across the Bombus phylogeny and identifies variations potentially linked to key ecological and behavioral traits of these important pollinators. Published version

Published
2020

43. Gibbon genome and the fast karyotype evolution of small apes

Author

Carbone, Lucia, Alan Harris, R., Gnerre, Sante, Veeramah, Krishna R., Lorente-Galdos, Belen, Huddleston, John, Meyer, Thomas J., Herrero, Javier, Roos, Christian, Aken, Bronwen, Anaclerio, Fabio, Archidiacono, Nicoletta, Baker, Carl, Barrell, Daniel, Batzer, Mark A., Beal, Kathryn, Blancher, Antoine, Bohrson, Craig L., Brameier, Markus, Campbell, Michael S., Capozzi, Oronzo, Casola, Claudio, Chiatante, Giorgia, Cree, Andrew, Damert, Annette, de Jong, Pieter J., Dumas, Laura, Fernandez-Callejo, Marcos, Flicek, Paul, Fuchs, Nina V., Gut, Ivo, Gut, Marta, Hahn, Matthew W., Hernandez-Rodriguez, Jessica, Hillier, LaDeana W., Hubley, Robert, Ianc, Bianca, Izsvák, Zsuzsanna, Jablonski, Nina G., Johnstone, Laurel M., Karimpour-Fard, Anis, Konkel, Miriam K., Kostka, Dennis, Lazar, Nathan H., Lee, Sandra L., Lewis, Lora R., Liu, Yue, Locke, Devin P., Mallick, Swapan, Mendez, Fernando L., Muffato, Matthieu, Nazareth, Lynne V., Nevonen, Kimberly A., O’Bleness, Majesta, Ochis, Cornelia, Odom, Duncan T., Pollard, Katherine S., Quilez, Javier, Reich, David, Rocchi, Mariano, Schumann, Gerald G., Searle, Stephen, Sikela, James M., Skollar, Gabriella, Smit, Arian, Sonmez, Kemal, Hallers, Boudewijn ten, Terhune, Elizabeth, Thomas, Gregg W. C., Ullmer, Brygg, Ventura, Mario, Walker, Jerilyn A., Wall, Jeffrey D., Walter, Lutz, Ward, Michelle C., Wheelan, Sarah J., Whelan, Christopher W., White, Simon, Wilhelm, Larry J., Woerner, August E., Yandell, Mark, Zhu, Baoli, Hammer, Michael F., Marques-Bonet, Tomas, Eichler, Evan E., Fulton, Lucinda, Fronick, Catrina, Muzny, Donna M., Warren, Wesley C., Worley, Kim C., Rogers, Jeffrey, Wilson, Richard K., and Gibbs, Richard A.

Published
2014
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45. MOSQUITO GENOMICS: Extensive introgression in a malaria vector species complex revealed by phylogenomics

Author

Fontaine, Michael C., Pease, James B., Steele, Aaron, Waterhouse, Robert M., Neafsey, Daniel E., Sharakhov, Igor V., Jiang, Xiaofang, Hall, Andrew B., Catteruccia, Flaminia, Kakani, Evdoxia, Mitchell, Sara N., Wu, Yi-Chieh, Smith, Hilary A., Love, Rebecca R., Lawniczak, Mara K., Slotman, Michel A., Emrich, Scott J., Hahn, Matthew W., and Besansky, Nora J.

Published
2015
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46. Examining the Effects of Hibernation on Germline Mutation Rates in Grizzly Bears.

Author

Wang, Richard J, Peña-Garcia, Yadira, Bibby, Madeleine G, Raveendran, Muthuswamy, Harris, R Alan, Jansen, Heiko T, Robbins, Charles T, Rogers, Jeffrey, Kelley, Joanna L, and Hahn, Matthew W

Subjects
GRIZZLY bear, PUBERTY, HIBERNATION, BROWN bear, GENETIC mutation, GERM cells
Abstract

A male mutation bias is observed across vertebrates, and, where data are available, this bias is accompanied by increased per-generation mutation rates with parental age. While continuing mitotic cell division in the male germline post puberty has been proposed as the major cellular mechanism underlying both patterns, little direct evidence for this role has been found. Understanding the evolution of the per-generation mutation rate among species requires that we identify the molecular mechanisms that change between species. Here, we study the per-generation mutation rate in an extended pedigree of the brown (grizzly) bear, Ursus arctos horribilis. Brown bears hibernate for one-third of the year, a period during which spermatogenesis slows or stops altogether. The reduction of spermatogenesis is predicted to lessen the male mutation bias and to lower the per-generation mutation rate in this species. However, using whole-genome sequencing, we find that both male bias and per-generation mutation rates are highly similar to that expected for a non-hibernating species. We also carry out a phylogenetic comparison of substitution rates along the lineage leading to brown bear and panda (a non-hibernating species) and find no slowing of the substitution rate in the hibernator. Our results contribute to accumulating evidence that suggests that male germline cell division is not the major determinant of mutation rates and mutation biases. The results also provide a quantitative basis for improved estimates of the timing of carnivore evolution. [ABSTRACT FROM AUTHOR]

Published
2022
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47. Resistance to pirimiphos-methyl in West African Anopheles is spreading via duplication and introgression of the Ace1 locus

Author

Grau-Bové, Xavier, Lucas, Eric, Pipini, Dimitra, Rippon, Emily, van ‘t Hof, Arjèn E., Constant, Edi, Dadzie, Samuel, Egyir-Yawson, Alexander, Essandoh, John, Chabi, Joseph, Djogbénou, Luc, Harding, Nicholas J., Miles, Alistair, Kwiatkowski, Dominic, Donnelly, Martin J., Weetman, David, Jorge Edouardo Amaya-Romero, Diego, Ayala, Battey, C. J., Philip, Bejon, Besansky, Nora J., Austin, Burt, Jorge, Cano, Caputo, Beniamino, Edi, Constant, Carlo, Costantini, Boubacar, Coulibaly, DELLA TORRE, Alessandra, Abdoulaye, Diabate´, João, Dinis, Eleanor, Drury, Jorge, Edouardo, Nohal, Elissa, John, Essandoh, Fontaine, Michael C., Godfray, H. Charles J., Hahn, Matthew W., Christa, Henrichs, Christina, Hubbart, Isaacs, Alison T., Musa, Jawara, Jeffreys, Anna E., Dushyanth, Jyothi, Maryam, Kamali, Kern, Andrew D., Kwiatkowski, Dominic P., Clarkson, Chris S., Lawniczak, Mara K. N., Gilbert Le Goff, Lucas, Eric R., Cinzia, Malangone, Mawejje, Henry D., Charles, Mbogo, Daniel, Mead, Janet, Midega, Alistair, Miles, Nwakanma, Davis C., Samantha, O’Loughlin, João, Pinto, Riehle, Michelle M., Vincent, Robert, Rockett, Kirk A., Rohatgi, Kyanne R., Kate, Rowlands, Schrider, Daniel R., Igor, Sharakhov, Victoria, Simpson, Jim, Stalker, Troco, Arlete D., Vernick, Kenneth D., David, Weetman, White, Bradley J., Wilding, Craig S., IRTA, Institute of Molecular Biology and Biotechnology (IMBB-FORTH), Foundation for Research and Technology - Hellas (FORTH), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Centre de Recherche Entomologique de Cotonou (CREC), Ministère de la Santé, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Liverpool School of Tropical Medicine (LSTM), Instituto de Higiene e Medicina Tropical (IHMT), Global Health and Tropical Medicine (GHTM), Vector borne diseases and pathogens (VBD), Institut de Recerca i Tecnologia Agroalimentàries = Institute of Agrifood Research and Technology (IRTA), University of Oxford, and Fontaine lab

Subjects
Cancer Research, Insecticides, Heredity, Introgression, Anopheles gambiae, Anopheles Gambiae, QH426-470, Disease Vectors, Mosquitoes, Ghana, Insecticide Resistance, Geographical Locations, пиримифос-метил, 0302 clinical medicine, Medical Conditions, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Invertebrate Genomics, Medicine and Health Sciences, Genetics(clinical), Copy-number variation, Association mapping, Genetics (clinical), SDG 15 - Life on Land, Data Management, Genetics, 0303 health sciences, education.field_of_study, biology, malaria vectors, genomics, insecticide resistance, anopheles gambiae, anopheles coluzzii, Anopheles, Eukaryota, Phylogenetic Analysis, Agriculture, Genomics, 3. Good health, Insects, Phylogenetics, Africa, Western, Genetic Mapping, Infectious Diseases, [SDE]Environmental Sciences, Acetylcholinesterase, Agrochemicals, Research Article, Computer and Information Sciences, африканские комары, Evolutionary Processes, DNA Copy Number Variations, Arthropoda, 030231 tropical medicine, Population, Locus (genetics), Mosquito Vectors, Genetic Introgression, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genes, Duplicate, Animals, Humans, Evolutionary Systematics, education, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Taxonomy, Evolutionary Biology, Haplotype, Organisms, Biology and Life Sciences, Organothiophosphorus Compounds, biology.organism_classification, Invertebrates, Malaria, Insect Vectors, Species Interactions, Haplotypes, Animal Genomics, Vector (epidemiology), People and Places, Africa, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, Zoology, Entomology
Abstract

Vector population control using insecticides is a key element of current strategies to prevent malaria transmission in Africa. The introduction of effective insecticides, such as the organophosphate pirimiphos-methyl, is essential to overcome the recurrent emergence of resistance driven by the highly diverse Anopheles genomes. Here, we use a population genomic approach to investigate the basis of pirimiphos-methyl resistance in the major malaria vectors Anopheles gambiae and A. coluzzii. A combination of copy number variation and a single non-synonymous substitution in the acetylcholinesterase gene, Ace1, provides the key resistance diagnostic in an A. coluzzii population from Côte d’Ivoire that we used for sequence-based association mapping, with replication in other West African populations. The Ace1 substitution and duplications occur on a unique resistance haplotype that evolved in A. gambiae and introgressed into A. coluzzii, and is now common in West Africa primarily due to selection imposed by other organophosphate or carbamate insecticides. Our findings highlight the predictive value of this complex resistance haplotype for phenotypic resistance and clarify its evolutionary history, providing tools to for molecular surveillance of the current and future effectiveness of pirimiphos-methyl based interventions., Author summary Control of mosquito populations via insecticidal tools or interventions is a mainstay of campaigns to reduce malaria transmission. However, especially in sub-Saharan Africa, continued insecticidal selection pressure on the most important species of Anopheles malaria mosquitoes has favoured the evolutionary selection of increasingly effective resistance mechanisms. We investigate the genetic basis of resistance to the organophosphate pirimiphos-methyl, the dominant insecticide now used for indoor residual spraying campaigns in Africa. Genome-wide association analysis of a population from Cote d’Ivoire showed that resistant specimens share a unique combination of mutations in one gene, the acetylcholinesterase enzyme, which constitute the prime cause of pirimiphos-methyl resistance. Further testing of these mutations in diagnostic assays involving two major malaria vectors, A. coluzzii and A. gambiae, validate their use as informative predictors of pirimiphos-methyl resistance. Using data from a large collection of whole genome sequenced specimens from a broader range of locations (Burkina-Faso, Côte d’Ivoire, Ghana, and Guinea), our evolutionary analyses demonstrate that these mutations emerged in A. gambiae and transferred into A. coluzzii by inter-specific hybridisation. Our results show how resistance mechanisms in key malaria vectors have developed and spread, and provide validated tools for molecular surveillance to inform public health campaigns.

Published
2021

49. Comparative and demographic analysis of orang-utan genomes

Author

Locke, Devin P., Hillier, LaDeana W., Warren, Wesley C., Worley, Kim C., Nazareth, Lynne V., Muzny, Donna M., Yang, Shiaw-Pyng, Wang, Zhengyuan, Chinwalla, Asif T., Minx, Pat, Mitreva, Makedonka, Cook, Lisa, Delehaunty, Kim D., Fronick, Catrina, Schmidt, Heather, Fulton, Lucinda A., Fulton, Robert S., Nelson, Joanne O., Magrini, Vincent, Pohl, Craig, Graves, Tina A., Markovic, Chris, Cree, Andy, Dinh, Huyen H., Hume, Jennifer, Kovar, Christie L., Fowler, Gerald R., Lunter, Gerton, Meader, Stephen, Heger, Andreas, Ponting, Chris P., Marques-Bonet, Tomas, Alkan, Can, Chen, Lin, Cheng, Ze, Kidd, Jeffrey M., Eichler, Evan E., White, Simon, Searle, Stephen, Vilella, Albert J., Chen, Yuan, Flicek, Paul, Ma, Jian, Raney, Brian, Suh, Bernard, Burhans, Richard, Herrero, Javier, Haussler, David, Faria, Rui, Fernando, Olga, Darré, Fleur, Farré, Domènec, Gazave, Elodie, Oliva, Meritxell, Navarro, Arcadi, Roberto, Roberta, Capozzi, Oronzo, Archidiacono, Nicoletta, Valle, Giuliano Della, Purgato, Stefania, Rocchi, Mariano, Konkel, Miriam K., Walker, Jerilyn A., Ullmer, Brygg, Batzer, Mark A., Smit, Arian F. A., Hubley, Robert, Casola, Claudio, Schrider, Daniel R., Hahn, Matthew W., Quesada, Victor, Puente, Xose S., Ordoñez, Gonzalo R., López-Otín, Carlos, Vinar, Tomas, Brejova, Brona, Ratan, Aakrosh, Harris, Robert S., Miller, Webb, Kosiol, Carolin, Lawson, Heather A., Taliwal, Vikas, Martins, André L., Siepel, Adam, RoyChoudhury, Arindam, Ma, Xin, Degenhardt, Jeremiah, Bustamante, Carlos D., Gutenkunst, Ryan N., Mailund, Thomas, Dutheil, Julien Y., Hobolth, Asger, Schierup, Mikkel H., Ryder, Oliver A., Yoshinaga, Yuko, de Jong, Pieter J., Weinstock, George M., Rogers, Jeffrey, Mardis, Elaine R., Gibbs, Richard A., and Wilson, Richard K.

Published
2011
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