Hagfish genome elucidates vertebrate whole-genome duplication events and their evolutionary consequences.


Journal

Nature ecology & evolution
ISSN: 2397-334X
Titre abrégé: Nat Ecol Evol
Pays: England
ID NLM: 101698577

Informations de publication

Date de publication:
12 Jan 2024
Historique:
received: 06 04 2023
accepted: 04 12 2023
medline: 13 1 2024
pubmed: 13 1 2024
entrez: 12 1 2024
Statut: aheadofprint

Résumé

Polyploidy or whole-genome duplication (WGD) is a major event that drastically reshapes genome architecture and is often assumed to be causally associated with organismal innovations and radiations. The 2R hypothesis suggests that two WGD events (1R and 2R) occurred during early vertebrate evolution. However, the timing of the 2R event relative to the divergence of gnathostomes (jawed vertebrates) and cyclostomes (jawless hagfishes and lampreys) is unresolved and whether these WGD events underlie vertebrate phenotypic diversification remains elusive. Here we present the genome of the inshore hagfish, Eptatretus burgeri. Through comparative analysis with lamprey and gnathostome genomes, we reconstruct the early events in cyclostome genome evolution, leveraging insights into the ancestral vertebrate genome. Genome-wide synteny and phylogenetic analyses support a scenario in which 1R occurred in the vertebrate stem-lineage during the early Cambrian, and 2R occurred in the gnathostome stem-lineage, maximally in the late Cambrian-earliest Ordovician, after its divergence from cyclostomes. We find that the genome of stem-cyclostomes experienced an additional independent genome triplication. Functional genomic and morphospace analyses demonstrate that WGD events generally contribute to developmental evolution with similar changes in the regulatory genome of both vertebrate groups. However, appreciable morphological diversification occurred only in the gnathostome but not in the cyclostome lineage, calling into question the general expectation that WGDs lead to leaps of bodyplan complexity.

Identifiants

pubmed: 38216617
doi: 10.1038/s41559-023-02299-z
pii: 10.1038/s41559-023-02299-z
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : 19K06798
Organisme : National Science Foundation (NSF)
ID : 1755418
Organisme : U.S. Department of Health & Human Services | National Institutes of Health (NIH)
ID : R01AI072435
Organisme : U.S. Department of Health & Human Services | National Institutes of Health (NIH)
ID : R35GM122591
Organisme : John Templeton Foundation (JTF)
ID : 62220
Organisme : John Templeton Foundation (JTF)
ID : 62220
Organisme : RCUK | Natural Environment Research Council (NERC)
ID : NE/P013678/1
Organisme : RCUK | Natural Environment Research Council (NERC)
ID : NE/P013678/1
Organisme : Wellcome Trust (Wellcome)
ID : 108749/Z/15/Z
Organisme : Leverhulme Trust
ID : RF-2022-167
Organisme : RCUK | Biotechnology and Biological Sciences Research Council (BBSRC)
ID : BB/T012773/1
Organisme : National Natural Science Foundation of China (National Science Foundation of China)
ID : 31970565

Informations de copyright

© 2024. The Author(s).

Références

Van de Peer, Y., Maere, S. & Meyer, A. The evolutionary significance of ancient genome duplications. Nat. Rev. Genet. 10, 725–732 (2009).
pubmed: 19652647 doi: 10.1038/nrg2600
Dehal, P. & Boore, J. L. Two rounds of whole genome duplication in the ancestral vertebrate. PLoS Biol. 3, e314 (2005).
pubmed: 16128622 pmcid: 1197285 doi: 10.1371/journal.pbio.0030314
Ohno, S. Evolution by Gene Duplication (Springer, 1970).
Donoghue, P. & Purnell, M. Genome duplication, extinction and vertebrate evolution. Trends Ecol. Evol. 20, 312–319 (2005).
pubmed: 16701387 doi: 10.1016/j.tree.2005.04.008
Holland, L. Z. & Ocampo Daza, D. A new look at an old question: when did the second whole genome duplication occur in vertebrate evolution? Genome Biol. 19, 2–5 (2018).
doi: 10.1186/s13059-018-1592-0
Shimeld, S. M. & Donoghue, P. C. J. Evolutionary crossroads in developmental biology: cyclostomes (lamprey and hagfish). Development 139, 2091–2099 (2012).
pubmed: 22619386 doi: 10.1242/dev.074716
Kuraku, S., Meyer, A. & Kuratani, S. Timing of genome duplications relative to the origin of the vertebrates: did cyclostomes diverge before or after? Mol. Biol. Evol. 26, 47–59 (2009).
pubmed: 18842688 doi: 10.1093/molbev/msn222
Sacerdot, C., Louis, A., Bon, C., Berthelot, C. & Roest Crollius, H. Chromosome evolution at the origin of the ancestral vertebrate genome. Genome Biol. 19, 166 (2018).
pubmed: 30333059 pmcid: 6193309 doi: 10.1186/s13059-018-1559-1
Escriva, H., Manzon, L., Youson, J. & Laudet, V. Analysis of lamprey and hagfish genes reveals a complex history of gene duplications during early vertebrate evolution. Mol. Biol. Evol. 19, 1440–1450 (2002).
pubmed: 12200472 doi: 10.1093/oxfordjournals.molbev.a004207
Holland, P. W. H., Garcia-Fernandez, J., Williams, N. A. & Sidow, A. Gene duplications and the origins of vertebrate development. Development 120, 125–133 (1994).
doi: 10.1242/dev.1994.Supplement.125
Nakatani, Y. et al. Reconstruction of proto-vertebrate, proto-cyclostome and proto-gnathostome genomes provides new insights into early vertebrate evolution. Nat. Commun. 12, 4489 (2021).
pubmed: 34301952 pmcid: 8302630 doi: 10.1038/s41467-021-24573-z
Simakov, O. et al. Deeply conserved synteny resolves early events in vertebrate evolution. Nat. Ecol. Evol. 4, 820–830 (2020).
pubmed: 32313176 pmcid: 7269912 doi: 10.1038/s41559-020-1156-z
Putnam, N. H. et al. The amphioxus genome and the evolution of the chordate karyotype. Nature 453, 1064–1071 (2008).
pubmed: 18563158 doi: 10.1038/nature06967
Nakatani, Y., Takeda, H., Kohara, Y. & Morishita, S. Reconstruction of the vertebrate ancestral genome reveals dynamic genome reorganization in early vertebrates. Genome Res. 17, 1254–1265 (2007).
pubmed: 17652425 pmcid: 1950894 doi: 10.1101/gr.6316407
Lamb, T. D. Analysis of paralogons, origin of the vertebrate karyotype, and ancient chromosomes retained in extant species. Genome Biol. Evol. 13, evab044 (2021).
pubmed: 33751101 pmcid: 8040251 doi: 10.1093/gbe/evab044
Smith, J. J. & Keinath, M. C. The sea lamprey meiotic map improves resolution of ancient vertebrate genome duplications. Genome Res. 25, 1081–1090 (2015).
pubmed: 26048246 pmcid: 4509993 doi: 10.1101/gr.184135.114
Smith, J. J. et al. The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. Nat. Genet. 50, 270–277 (2018).
pubmed: 29358652 pmcid: 5805609 doi: 10.1038/s41588-017-0036-1
Mehta, T. K. et al. Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum). Proc. Natl Acad. Sci. USA 110, 16044–16049 (2013).
pubmed: 24043829 pmcid: 3791769 doi: 10.1073/pnas.1315760110
Pascual-Anaya, J. et al. Hagfish and lamprey Hox genes reveal conservation of temporal colinearity in vertebrates. Nat. Ecol. Evol. 2, 859–866 (2018).
pubmed: 29610468 doi: 10.1038/s41559-018-0526-2
Smith, J. J., Antonacci, F., Eichler, E. E. & Amemiya, C. T. Programmed loss of millions of base pairs from a vertebrate genome. Proc. Natl Acad. Sci. USA. 106, 11212–11217 (2009).
pubmed: 19561299 pmcid: 2708698 doi: 10.1073/pnas.0902358106
Kohno, S., Kubota, S. & Nakai, Y. in The Biology of Hagfishes 81–100 (Springer, 1998).
Putnam, N. H. et al. Chromosome-scale shotgun assembly using an in vitro method for long-range linkage. Genome Res. 26, 342–350 (2016).
pubmed: 26848124 pmcid: 4772016 doi: 10.1101/gr.193474.115
Kuraku, S. Insights into cyclostome phylogenomics: pre-2R or post-2R. Zool. Sci. 25, 960–968 (2008).
doi: 10.2108/zsj.25.960
Aken, B. L. et al. The Ensembl gene annotation system. Database 2016, baw093 (2016).
pubmed: 27337980 pmcid: 4919035 doi: 10.1093/database/baw093
Heimberg, A. M., Cowper-Sal·lari, R., Sémon, M., Donoghue, P. C. J. & Peterson, K. J. microRNAs reveal the interrelationships of hagfish, lampreys, and gnathostomes and the nature of the ancestral vertebrate. Proc. Natl Acad. Sci. USA 107, 19379–19383 (2010).
pubmed: 20959416 pmcid: 2984222 doi: 10.1073/pnas.1010350107
Fromm, B. et al. MirGeneDB 2.1: toward a complete sampling of all major animal phyla. Nucleic Acids Res. 50, D204–D210 (2022).
pubmed: 34850127 doi: 10.1093/nar/gkab1101
Kuraku, S. & Kuratani, S. Time scale for cyclostome evolution inferred with a phylogenetic diagnosis of hagfish and lamprey cDNA sequences. Zool. Sci. 23, 1053–1064 (2006).
doi: 10.2108/zsj.23.1053
Kuratani, S. in Current Topics in Developmental Biology Vol. 141 (ed. Gilbert, S. F.) 207–239 (Academic Press, 2021).
Szöllősi, G. J., Rosikiewicz, W., Boussau, B., Tannier, E. & Daubin, V. Efficient exploration of the space of reconciled gene trees. Syst. Biol. 62, 901–912 (2013).
pubmed: 23925510 pmcid: 3797637 doi: 10.1093/sysbio/syt054
Shimodaira, H. An approximately unbiased test of phylogenetic tree selection. Syst. Biol. 51, 492–508 (2002).
pubmed: 12079646 doi: 10.1080/10635150290069913
Paps, J. & Holland, P. W. H. Reconstruction of the ancestral metazoan genome reveals an increase in genomic novelty. Nat. Commun. 9, 1730 (2018).
pubmed: 29712911 pmcid: 5928047 doi: 10.1038/s41467-018-04136-5
Bowles, A. M. C., Bechtold, U. & Paps, J. The origin of land plants is rooted in two bursts of genomic novelty. Curr. Biol. 30, 530–536.e2 (2020).
pubmed: 31956023 doi: 10.1016/j.cub.2019.11.090
Guijarro-Clarke, C., Holland, P. W. H. & Paps, J. Widespread patterns of gene loss in the evolution of the animal kingdom. Nat. Ecol. Evol. 4, 519–523 (2020).
pubmed: 32094540 doi: 10.1038/s41559-020-1129-2
Tan, M. et al. The whale shark genome reveals patterns of vertebrate gene family evolution. eLife 10, e65394 (2021).
pubmed: 34409936 pmcid: 8455134 doi: 10.7554/eLife.65394
Boehm, T. et al. Evolution of alternative adaptive immune systems in vertebrates. Annu. Rev. Immunol. 36, 19–42 (2018).
pubmed: 29144837 doi: 10.1146/annurev-immunol-042617-053028
Meyer, A. & Van de Peer, Y. From 2R to 3R: evidence for a fish-specific genome duplication (FSGD). BioEssays 27, 937–945 (2005).
pubmed: 16108068 doi: 10.1002/bies.20293
Nakatani, Y. & McLysaght, A. Macrosynteny analysis shows the absence of ancient whole-genome duplication in lepidopteran insects. Proc. Natl Acad. Sci. USA 116, 1816–1818 (2019).
pubmed: 30674659 pmcid: 6369814 doi: 10.1073/pnas.1817937116
Simakov, O. et al. Deeply conserved synteny and the evolution of metazoan chromosomes. Sci. Adv. 8, eabi5884 (2022).
pubmed: 35108053 pmcid: 8809688 doi: 10.1126/sciadv.abi5884
Hillier, L. W. et al. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature 432, 695–716 (2004).
doi: 10.1038/nature03154
Braasch, I. et al. The spotted gar genome illuminates vertebrate evolution and facilitates human–teleost comparisons. Nat. Genet. 48, 427–437 (2016).
pubmed: 26950095 pmcid: 4817229 doi: 10.1038/ng.3526
Venkatesh, B. et al. Elephant shark genome provides unique insights into gnathostome evolution. Nature 505, 174–179 (2014).
pubmed: 24402279 pmcid: 3964593 doi: 10.1038/nature12826
Zhang, X. et al. The sea cucumber genome provides insights into morphological evolution and visceral regeneration. PLOS Biol. 15, e2003790 (2017).
pubmed: 29023486 pmcid: 5638244 doi: 10.1371/journal.pbio.2003790
Huang, S. et al. Decelerated genome evolution in modern vertebrates revealed by analysis of multiple lancelet genomes. Nat. Commun. 5, 5896 (2014).
pubmed: 25523484 doi: 10.1038/ncomms6896
Parey, E. et al. An atlas of fish genome evolution reveals delayed rediploidization following the teleost whole-genome duplication. Genome Res. 32, 1685–1697 (2022).
pubmed: 35961774 pmcid: 9528989 doi: 10.1101/gr.276953.122
Timoshevskaya, N. et al. An improved germline genome assembly for the sea lamprey Petromyzon marinus illuminates the evolution of germline-specific chromosomes. Cell Rep. 42, 112263 (2023).
pubmed: 36930644 pmcid: 10166183 doi: 10.1016/j.celrep.2023.112263
Redmond, A. K., Casey, D., Gundappa, M. K., Macqueen, D. J. & McLysaght, A. Independent rediploidization masks shared whole genome duplication in the sturgeon-paddlefish ancestor. Nat. Commun. 14, 2879 (2023).
pubmed: 37208359 pmcid: 10199039 doi: 10.1038/s41467-023-38714-z
Marlétaz, F. et al. Amphioxus functional genomics and the origins of vertebrate gene regulation. Nature 564, 64–70 (2018).
pubmed: 30464347 pmcid: 6292497 doi: 10.1038/s41586-018-0734-6
Oisi, Y., Ota, K. G., Kuraku, S., Fujimoto, S. & Kuratani, S. Craniofacial development of hagfishes and the evolution of vertebrates. Nature 493, 175–180 (2013).
pubmed: 23254938 doi: 10.1038/nature11794
Sandve, S. R., Rohlfs, R. V. & Hvidsten, T. R. Subfunctionalization versus neofunctionalization after whole-genome duplication. Nat. Genet. 50, 908–909 (2018).
pubmed: 29955176 doi: 10.1038/s41588-018-0162-4
Álvarez-Carretero, S. et al. A species-level timeline of mammal evolution integrating phylogenomic data. Nature 602, 263–267 (2022).
pubmed: 34937052 doi: 10.1038/s41586-021-04341-1
Gundappa, M. K. et al. Genome-wide reconstruction of rediploidization following autopolyploidization across one hundred million years of salmonid evolution. Mol. Biol. Evol. 39, msab310 (2022).
pubmed: 34718723 doi: 10.1093/molbev/msab310
Lien, S. et al. The Atlantic salmon genome provides insights into rediploidization. Nature 533, 200–205 (2016).
pubmed: 27088604 pmcid: 8127823 doi: 10.1038/nature17164
Martin, K. J. & Holland, P. W. H. Enigmatic orthology relationships between Hox clusters of the African butterfly fish and other teleosts following ancient whole-genome duplication. Mol. Biol. Evol. 31, 2592–2611 (2014).
pubmed: 24974377 pmcid: 4166920 doi: 10.1093/molbev/msu202
Robertson, F. M. et al. Lineage-specific rediploidization is a mechanism to explain time-lags between genome duplication and evolutionary diversification. Genome Biol. 18, 111 (2017).
pubmed: 28615063 pmcid: 5470254 doi: 10.1186/s13059-017-1241-z
Doyle, J. J. & Egan, A. N. Dating the origins of polyploidy events. New Phytol. 186, 73–85 (2010).
pubmed: 20028472 doi: 10.1111/j.1469-8137.2009.03118.x
Shimeld, S. M. & Holland, P. W. H. Vertebrate innovations. Proc. Natl Acad. Sci. USA 97, 4449–4452 (2000).
pubmed: 10781042 pmcid: 34320 doi: 10.1073/pnas.97.9.4449
Peterson, K. J. et al. MicroRNAs as indicators into the causes and consequences of whole-genome duplication events. Mol. Biol. Evol. 39, msab344 (2022).
pubmed: 34865078 doi: 10.1093/molbev/msab344
Donoghue, P. C. J. & Keating, J. N. Early vertebrate evolution. Palaeontology 57, 879–893 (2014).
doi: 10.1111/pala.12125
Kon, T. et al. The genetic basis of morphological diversity in domesticated goldfish. Curr. Biol. 30, 2260–2274.e6 (2020).
pubmed: 32392470 doi: 10.1016/j.cub.2020.04.034
Qiu, T., Liu, Z. & Liu, B. The effects of hybridization and genome doubling in plant evolution via allopolyploidy. Mol. Biol. Rep. 47, 5549–5558 (2020).
pubmed: 32572735 doi: 10.1007/s11033-020-05597-y
Soltis, P. S. & Soltis, D. E. Ancient WGD events as drivers of key innovations in angiosperms. Curr. Opin. Plant Biol. 30, 159–165 (2016).
pubmed: 27064530 doi: 10.1016/j.pbi.2016.03.015
Barker, M. S., Arrigo, N., Baniaga, A. E., Li, Z. & Levin, D. A. On the relative abundance of autopolyploids and allopolyploids. New Phytol. 210, 391–398 (2016).
pubmed: 26439879 doi: 10.1111/nph.13698
Estep, M. C. et al. Allopolyploidy, diversification, and the Miocene grassland expansion. Proc. Natl Acad. Sci. USA 111, 15149–15154 (2014).
pubmed: 25288748 pmcid: 4210326 doi: 10.1073/pnas.1404177111
Alix, K., Gérard, P. R., Schwarzacher, T. & Heslop-Harrison, J. S. (Pat).Polyploidy and interspecific hybridization: partners for adaptation, speciation and evolution in plants. Ann. Bot. 120, 183–194 (2017).
pubmed: 28854567 pmcid: 5737848 doi: 10.1093/aob/mcx079
Steensels, J., Gallone, B. & Verstrepen, K. J. Interspecific hybridization as a driver of fungal evolution and adaptation. Nat. Rev. Microbiol. 19, 485–500 (2021).
pubmed: 33767366 doi: 10.1038/s41579-021-00537-4
Taylor, S. A. & Larson, E. L. Insights from genomes into the evolutionary importance and prevalence of hybridization in nature. Nat. Ecol. Evol. 3, 170–177 (2019).
pubmed: 30697003 doi: 10.1038/s41559-018-0777-y
Wu, Y. et al. Genomic mosaicism due to homoeologous exchange generates extensive phenotypic diversity in nascent allopolyploids. Natl Sci. Rev. 8, nwaa277 (2021).
pubmed: 34691642 doi: 10.1093/nsr/nwaa277
Oisi, Y., Kakitani, O., Kuratani, S. & Ota, K. G. in In Situ Hybridization Methods Vol. 99 (ed. Hauptmann, G.) 249–262 (Springer, 2015).
Walker, B. J. et al. Pilon: an integrated tool for comprehensive microbial variant detection and genome assembly improvement. PLoS ONE 9, e112963 (2014).
pubmed: 25409509 pmcid: 4237348 doi: 10.1371/journal.pone.0112963
Cunningham, F. et al. Ensembl 2019. Nucleic Acids Res. 47, D745–D751 (2019).
pubmed: 30407521 doi: 10.1093/nar/gky1113
Burton, J. N. et al. Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat. Biotechnol. 31, 1119–1125 (2013).
pubmed: 24185095 pmcid: 4117202 doi: 10.1038/nbt.2727
Umu, S. U. et al. Accurate microRNA annotation of animal genomes using trained covariance models of curated microRNA complements in MirMachine. Cell Genomics 3, 100348 (2023).
pubmed: 37601971 pmcid: 10435380 doi: 10.1016/j.xgen.2023.100348
Wheeler, B. M. et al. The deep evolution of metazoan microRNAs. Evol. Dev. 11, 50–68 (2009).
pubmed: 19196333 doi: 10.1111/j.1525-142X.2008.00302.x
Smith, J. J. et al. Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nat. Genet. 45, 415–421 (2013).
pubmed: 23435085 pmcid: 3709584 doi: 10.1038/ng.2568
Simao, F. A., Waterhouse, R. M., Ioannidis, P., Kriventseva, E. V. & Zdobnov, E. M. BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs. Bioinformatics 31, 3210–3212 (2015).
pubmed: 26059717 doi: 10.1093/bioinformatics/btv351
Zhu, T. et al. Chromosome‐level genome assembly of Lethenteron reissneri provides insights into lamprey evolution. Mol. Ecol. Resour. 21, 448–463 (2021).
pubmed: 33053263 doi: 10.1111/1755-0998.13279
Ebersberger, I., Strauss, S. & von Haeseler, A. HaMStR: profile hidden Markov model based search for orthologs in ESTs. BMC Evol. Biol. 9, 157 (2009).
pubmed: 19586527 pmcid: 2723089 doi: 10.1186/1471-2148-9-157
Katoh, K. & Standley, D. M. MAFFT multiple sequence alignment software version 7: improvements in performance and usability. Mol. Biol. Evol. 30, 772–780 (2013).
pubmed: 23329690 pmcid: 3603318 doi: 10.1093/molbev/mst010
Capella-Gutierrez, S., Silla-Martinez, J. M. & Gabaldon, T. trimAl: a tool for automated alignment trimming in large-scale phylogenetic analyses. Bioinformatics 25, 1972–1973 (2009).
pubmed: 19505945 pmcid: 2712344 doi: 10.1093/bioinformatics/btp348
Lartillot, N., Brinkmann, H. & Philippe, H. Suppression of long-branch attraction artefacts in the animal phylogeny using a site-heterogeneous model. BMC Evol. Biol. 7, S4 (2007).
pubmed: 17288577 pmcid: 1796613 doi: 10.1186/1471-2148-7-S1-S4
Lartillot, N. & Philippe, H. Computing Bayes factors using thermodynamic integration. Syst. Biol. 55, 195–207 (2006).
pubmed: 16522570 doi: 10.1080/10635150500433722
Lartillot, N. & Philippe, H. A Bayesian mixture model for across-site heterogeneities in the amino-acid replacement process. Mol. Biol. Evol. 21, 1095–1109 (2004).
pubmed: 15014145 doi: 10.1093/molbev/msh112
Tavaré, S. Some probabilistic and statistical problems in the analysis of DNA sequences. Lect. Math. Life Sci. 17, 57–86 (1986).
Yang, Z. Maximum likelihood phylogenetic estimation from DNA sequences with variable rates over sites: approximate methods. J. Mol. Evol. 39, 306–314 (1994).
pubmed: 7932792 doi: 10.1007/BF00160154
Rambaut, A., Drummond, A. J., Xie, D., Baele, G. & Suchard, M. A. Posterior summarization in Bayesian phylogenetics using Tracer 1.7. Syst. Biol. 67, 901–904 (2018).
pubmed: 29718447 pmcid: 6101584 doi: 10.1093/sysbio/syy032
dos Reis, M. & Yang, Z. Approximate likelihood calculation on a phylogeny for Bayesian estimation of divergence times. Mol. Biol. Evol. 28, 2161–2172 (2011).
pubmed: 21310946 doi: 10.1093/molbev/msr045
Darriba, D., Taboada, G. L., Doallo, R. & Posada, D. ProtTest 3: fast selection of best-fit models of protein evolution. Bioinformatics 27, 1164–1165 (2011).
pubmed: 21335321 doi: 10.1093/bioinformatics/btr088
Le, S. Q. & Gascuel, O. An improved general amino acid replacement matrix. Mol. Biol. Evol. 25, 1307–1320 (2008).
pubmed: 18367465 doi: 10.1093/molbev/msn067
Whelan, S. & Goldman, N. A general empirical model of protein evolution derived from multiple protein families using a maximum-likelihood approach. Mol. Biol. Evol. 18, 691–699 (2001).
pubmed: 11319253 doi: 10.1093/oxfordjournals.molbev.a003851
Jones, D. T., Taylor, W. R. & Thornton, J. M. The rapid generation of mutation data matrices from protein sequences. Bioinformatics 8, 275–282 (1992).
doi: 10.1093/bioinformatics/8.3.275
Dayhoff, M. O., Schwartz, R. M. & Orcutt, B. C. in Atlas of Protein Sequences and Structure (ed. Dayhoff, M. O.) 345–352 (National Biomedical Research Foundation, 1978).
Henikoff, S. & Henikoff, J. G. Amino acid substitution matrices from protein blocks. Proc. Natl Acad. Sci. USA 89, 10915–10919 (1992).
pubmed: 1438297 pmcid: 50453 doi: 10.1073/pnas.89.22.10915
Nguyen, L. T., Schmidt, H. A., von Haeseler, A. & Minh, B. Q. IQ-TREE: a fast and effective stochastic algorithm for estimating maximum-likelihood phylogenies. Mol. Biol. Evol. 32, 268–274 (2015).
pubmed: 25371430 doi: 10.1093/molbev/msu300
Emms, D. M. & Kelly, S. OrthoFinder: phylogenetic orthology inference for comparative genomics. Genome Biol. 20, 238 (2019).
pubmed: 31727128 pmcid: 6857279 doi: 10.1186/s13059-019-1832-y
Emms, D. M. & Kelly, S. OrthoFinder: solving fundamental biases in whole genome comparisons dramatically improves orthogroup inference accuracy. Genome Biol. 16, 157 (2015).
pubmed: 26243257 pmcid: 4531804 doi: 10.1186/s13059-015-0721-2
Kalyaanamoorthy, S., Minh, B. Q., Wong, T. K. F., von Haeseler, A. & Jermiin, L. S. ModelFinder: fast model selection for accurate phylogenetic estimates. Nat. Methods 14, 587–589 (2017).
pubmed: 28481363 pmcid: 5453245 doi: 10.1038/nmeth.4285
Shimodaira, H. Approximately unbiased tests of regions using multistep-multiscale bootstrap resampling. Ann. Stat. 32, 2616–2641 (2004).
doi: 10.1214/009053604000000823
Buchfink, B., Xie, C. & Huson, D. H. Fast and sensitive protein alignment using DIAMOND. Nat. Methods 12, 59–60 (2015).
pubmed: 25402007 doi: 10.1038/nmeth.3176
Van Dongen, S. Graph clustering via a discrete uncoupling process. SIAM J. Matrix Anal. Appl. 30, 121–141 (2008).
doi: 10.1137/040608635
Mi, H., Poudel, S., Muruganujan, A., Casagrande, J. T. & Thomas, P. D. PANTHER version 10: expanded protein families and functions, and analysis tools. Nucleic Acids Res. 44, D336–D342 (2016).
pubmed: 26578592 doi: 10.1093/nar/gkv1194
Acemel, R. D. et al. A single three-dimensional chromatin compartment in amphioxus indicates a stepwise evolution of vertebrate Hox bimodal regulation. Nat. Genet. 48, 336–341 (2016).
pubmed: 26829752 doi: 10.1038/ng.3497
Edgar, R. C. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res. 32, 1792–1797 (2004).
pubmed: 15034147 pmcid: 390337 doi: 10.1093/nar/gkh340
Kumar, S., Stecher, G., Li, M., Knyaz, C. & Tamura, K. MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol. Biol. Evol. 35, 1547–1549 (2018).
pubmed: 29722887 pmcid: 5967553 doi: 10.1093/molbev/msy096
Ronquist, F. et al. MrBayes 3.2: efficient Bayesian phylogenetic inference and model choice across a large model space. Syst. Biol. 61, 539–542 (2012).
pubmed: 22357727 pmcid: 3329765 doi: 10.1093/sysbio/sys029
Yang, Z. PAML 4: a program package for phylogenetic analysis by maximum likelihood. Mol. Biol. Evol. 24, 1586–1591 (2007).
pubmed: 17483113 doi: 10.1093/molbev/msm088
Löytynoja, A. & Goldman, N. Phylogeny-aware gap placement prevents errors in sequence alignment and evolutionary analysis. Science 320, 1632–1635 (2008).
pubmed: 18566285 doi: 10.1126/science.1158395
Zhou, Y. et al. Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. Nat. Commun. 10, 1523 (2019).
pubmed: 30944313 pmcid: 6447622 doi: 10.1038/s41467-019-09234-6
Mi, H. et al. PANTHER version 16: a revised family classification, tree-based classification tool, enhancer regions and extensive API. Nucleic Acids Res. 49, D394–D403 (2021).
pubmed: 33290554 doi: 10.1093/nar/gkaa1106
Buenrostro, J. D., Giresi, P. G., Zaba, L. C., Chang, H. Y. & Greenleaf, W. J. Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position. Nat. Methods 10, 1213–1218 (2013).
pubmed: 24097267 pmcid: 3959825 doi: 10.1038/nmeth.2688
Uesaka, M., Kuratani, S., Takeda, H. & Irie, N. Recapitulation-like developmental transitions of chromatin accessibility in vertebrates. Zool. Lett. 5, 33 (2019).
doi: 10.1186/s40851-019-0148-9
Langmead, B. & Salzberg, S. L. Fast gapped-read alignment with Bowtie 2. Nat. Methods 9, 357–359 (2012).
pubmed: 22388286 pmcid: 3322381 doi: 10.1038/nmeth.1923
Zhang, Y. et al. Model-based analysis of ChIP-Seq (MACS). Genome Biol. 9, R137 (2008).
pubmed: 18798982 pmcid: 2592715 doi: 10.1186/gb-2008-9-9-r137
Li, Q., Brown, J. B., Huang, H. & Bickel, P. J. Measuring reproducibility of high-throughput experiments. Ann. Appl. Stat. 5, 1752–1779 (2011).
doi: 10.1214/11-AOAS466
Brawand, D. et al. The evolution of gene expression levels in mammalian organs. Nature 478, 343–348 (2011).
pubmed: 22012392 doi: 10.1038/nature10532
Brazeau, M. D. The braincase and jaws of a Devonian ‘acanthodian’ and modern gnathostome origins. Nature 457, 305–308 (2009).
pubmed: 19148098 doi: 10.1038/nature07436
Clement, A. M. et al. Neurocranial anatomy of an enigmatic Early Devonian fish sheds light on early osteichthyan evolution. eLife 7, e34349 (2018).
pubmed: 29807569 pmcid: 5973833 doi: 10.7554/eLife.34349
Davis, S. P., Finarelli, J. A. & Coates, M. I. Acanthodes and shark-like conditions in the last common ancestor of modern gnathostomes. Nature 486, 247–250 (2012).
pubmed: 22699617 doi: 10.1038/nature11080
Gabbott, S. E. et al. Pigmented anatomy in Carboniferous cyclostomes and the evolution of the vertebrate eye. Proc. R. Soc. B 283, 20161151 (2016).
pubmed: 27488650 pmcid: 5013770 doi: 10.1098/rspb.2016.1151
Giles, S., Friedman, M. & Brazeau, M. D. Osteichthyan-like cranial conditions in an Early Devonian stem gnathostome. Nature 520, 82–85 (2015).
pubmed: 25581798 pmcid: 5536226 doi: 10.1038/nature14065
Keating, J. N. & Donoghue, P. C. J. Histology and affinity of anaspids, and the early evolution of the vertebrate dermal skeleton. Proc. R. Soc. B 283, 20152917 (2016).
pubmed: 26962140 pmcid: 4810860 doi: 10.1098/rspb.2015.2917
Lundgren, M. & Blom, H. Phylogenetic relationships of the cyathaspidids (Heterostraci). GFF 135, 74–84 (2013).
doi: 10.1080/11035897.2013.770792
Miyashita, T. et al. Hagfish from the Cretaceous Tethys Sea and a reconciliation of the morphological–molecular conflict in early vertebrate phylogeny. Proc. Natl Acad. Sci. USA 116, 2146–2151 (2019).
pubmed: 30670644 pmcid: 6369785 doi: 10.1073/pnas.1814794116
Pernègre, V. N. & Elliott, D. K. Phylogeny of the Pteraspidiformes (Heterostraci), Silurian–Devonian jawless vertebrates. Zool. Scr. 37, 391–403 (2008).
doi: 10.1111/j.1463-6409.2008.00333.x
Randle, E. & Sansom, R. S. Exploring phylogenetic relationships of Pteraspidiformes heterostracans (stem-gnathostomes) using continuous and discrete characters. J. Syst. Palaeontol. 15, 583–599 (2017).
doi: 10.1080/14772019.2016.1208293
Sansom, R. S. Phylogeny, classification and character polarity of the Osteostraci (Vertebrata). J. Syst. Palaeontol. 7, 95–115 (2009).
doi: 10.1017/S1477201908002551
Zhu, M. & Gai, Z. Phylogenetic relationships of galeaspids (Agnatha). Front. Biol. China 2, 151–169 (2007).
doi: 10.1007/s11515-007-0022-6
Brazeau, M. D. Problematic character coding methods in morphology and their effects. Biol. J. Linn. Soc. 104, 489–498 (2011).
doi: 10.1111/j.1095-8312.2011.01755.x
Lee, D. C. & Bryant, H. N. A reconsideration of the coding of inapplicable characters: assumptions and problems. Cladistics 15, 373–378 (1999).
pubmed: 34902944 doi: 10.1111/j.1096-0031.1999.tb00273.x
Strong, E. E. & Lipscomb, D. Character coding and inapplicable data. Cladistics 15, 363–371 (1999).
pubmed: 34902943 doi: 10.1111/j.1096-0031.1999.tb00272.x
Huelsenbeck, J. P., Nielsen, R., Bollback, J. P. & Schultz, T. Stochastic mapping of morphological characters. Syst. Biol. 52, 131–158 (2003).
pubmed: 12746144 doi: 10.1080/10635150390192780
Gower, J. C. A general coefficient of similarity and some of its properties. Biometrics 27, 857–874 (1971).
doi: 10.2307/2528823
Guillerme, T. & Poisot, T. dispRity: a modular R package for measuring disparity. Methods Ecol. Evol. 9, 1755–1763 (2018).
doi: 10.1111/2041-210X.13022
Pascual-Anaya, J. & Böhmer, C. in Hox Modules in Evolution and Development 121–139 (CRC Press, 2023).

Auteurs

Daqi Yu (D)

Key Laboratory of Zoological Systematics and Evolution and State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.
University of Chinese Academy of Sciences, Beijing, China.

Yandong Ren (Y)

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
School of Ecology and Environment, Northwestern Polytechnical University, Xi'an, China.

Masahiro Uesaka (M)

Laboratory for Evolutionary Morphology, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan.
Department of Ecological Developmental Adaptability Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan.

Alan J S Beavan (AJS)

Bristol Palaeobiology Group, School of Biological Sciences, University of Bristol, Bristol, UK.
School of Life Sciences, University of Nottingham, Nottingham, UK.

Matthieu Muffato (M)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Tree of Life, Wellcome Sanger Institute, Hinxton, UK.

Jieyu Shen (J)

Key Laboratory of Zoological Systematics and Evolution and State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.
University of Chinese Academy of Sciences, Beijing, China.

Yongxin Li (Y)

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
School of Ecology and Environment, Northwestern Polytechnical University, Xi'an, China.

Iori Sato (I)

Laboratory for Evolutionary Morphology, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan.
iPS Cell Advanced Characterization and Development Team, RIKEN BioResource Research Center, Tsukuba, Japan.

Wenting Wan (W)

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
School of Ecology and Environment, Northwestern Polytechnical University, Xi'an, China.

James W Clark (JW)

Bristol Palaeobiology Group, School of Biological Sciences, University of Bristol, Bristol, UK.
Milner Centre for Evolution, University of Bath, Claverton Down, Bath, UK.

Joseph N Keating (JN)

Bristol Palaeobiology Group, School of Earth Sciences, University of Bristol, Bristol, UK.

Emily M Carlisle (EM)

Bristol Palaeobiology Group, School of Earth Sciences, University of Bristol, Bristol, UK.

Richard P Dearden (RP)

School of Geography, Earth and Environmental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.
Naturalis Biodiversity Center, Leiden, the Netherlands.

Sam Giles (S)

School of Geography, Earth and Environmental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.

Emma Randle (E)

Department of Earth and Environmental Sciences, University of Manchester, Manchester, UK.

Robert S Sansom (RS)

Department of Earth and Environmental Sciences, University of Manchester, Manchester, UK.

Roberto Feuda (R)

Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.

James F Fleming (JF)

Keio University Institute for Advanced Biosciences, Tsuruoka, Japan.
Natural History Museum, University of Oslo, Oslo, Norway.

Fumiaki Sugahara (F)

Division of Biology, Hyogo Medical University, Nishinomiya, Japan.
Evolutionary Morphology Laboratory, RIKEN Cluster for Pioneering Research (CPR), Kobe, Japan.

Carla Cummins (C)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Mateus Patricio (M)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Wasiu Akanni (W)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

Salvatore D'Aniello (S)

Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn Napoli, Villa Comunale, Napoli, Italy.

Cristiano Bertolucci (C)

Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn Napoli, Villa Comunale, Napoli, Italy.
Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

Naoki Irie (N)

Research Center for Integrative Evolutionary Science, The Graduate University for Advanced Studies, SOKENDAI, Hayama, Japan.
Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.

Cantas Alev (C)

Institute for the Advanced Study of Human Biology (ASHBi), Kyoto University, Kyoto, Japan.

Guojun Sheng (G)

International Research Center for Medical Sciences (IRCMS), Kumamoto University, Kumamoto, Japan.

Alex de Mendoza (A)

School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.

Ignacio Maeso (I)

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona (UB), Barcelona, Spain.
Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona (UB), Barcelona, Spain.

Manuel Irimia (M)

Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Universitat Pompeu Fabra (UPF), Barcelona, Spain.
ICREA, Barcelona, Spain.

Bastian Fromm (B)

The Arctic University Museum of Norway, UiT - The Arctic University of Norway, Tromsø, Norway.

Kevin J Peterson (KJ)

Department of Biological Sciences, Dartmouth College, Hanover, NH, USA.

Sabyasachi Das (S)

Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Emory Vaccine Center, Emory University, Atlanta, GA, USA.

Masayuki Hirano (M)

Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Emory Vaccine Center, Emory University, Atlanta, GA, USA.

Jonathan P Rast (JP)

Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Emory Vaccine Center, Emory University, Atlanta, GA, USA.

Max D Cooper (MD)

Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Emory Vaccine Center, Emory University, Atlanta, GA, USA.

Jordi Paps (J)

Bristol Palaeobiology Group, School of Earth Sciences, University of Bristol, Bristol, UK.

Davide Pisani (D)

Bristol Palaeobiology Group, School of Biological Sciences, University of Bristol, Bristol, UK.
Bristol Palaeobiology Group, School of Earth Sciences, University of Bristol, Bristol, UK.

Shigeru Kuratani (S)

Laboratory for Evolutionary Morphology, RIKEN Center for Biosystems Dynamics Research (BDR), Kobe, Japan.
Evolutionary Morphology Laboratory, RIKEN Cluster for Pioneering Research (CPR), Kobe, Japan.

Fergal J Martin (FJ)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK. fergal@ebi.ac.uk.

Wen Wang (W)

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China. wwang@mail.kiz.ac.cn.
School of Ecology and Environment, Northwestern Polytechnical University, Xi'an, China. wwang@mail.kiz.ac.cn.
CAS Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China. wwang@mail.kiz.ac.cn.

Philip C J Donoghue (PCJ)

Bristol Palaeobiology Group, School of Earth Sciences, University of Bristol, Bristol, UK. Phil.Donoghue@bristol.ac.uk.

Yong E Zhang (YE)

Key Laboratory of Zoological Systematics and Evolution and State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing, China. zhangyong@ioz.ac.cn.
University of Chinese Academy of Sciences, Beijing, China. zhangyong@ioz.ac.cn.
CAS Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China. zhangyong@ioz.ac.cn.

Juan Pascual-Anaya (J)

Evolutionary Morphology Laboratory, RIKEN Cluster for Pioneering Research (CPR), Kobe, Japan. jpascualanaya@gmail.com.
Department of Animal Biology, Faculty of Science, University of Málaga (UMA), Málaga, Spain. jpascualanaya@gmail.com.
Edificio de Bioinnovación, Universidad de Málaga, Málaga, Spain. jpascualanaya@gmail.com.

Classifications MeSH