Emma L. Berdan1,
2,
Thomas G. Aubier3,
4,
Salvatore Cozzolino5,
Rui Faria6,
7,
Jeffrey L. Feder8,
Mabel D. Giménez9,
10,
Mathieu Joron11,
Jeremy B. Searle12 and
Claire Mérot13
1Department of Marine Sciences, Gothenburg University, Gothenburg 40530, Sweden
2Bioinformatics Core, Department of Biostatistics, Harvard T.H. Chan School of Public Health, Harvard Medical School, Boston,
Massachusetts 02115, USA
3Laboratoire Évolution & Diversité Biologique, Université Paul Sabatier Toulouse III, UMR 5174, CNRS/IRD, 31077 Toulouse, France
4Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA
5Department of Biology, University of Naples Federico II, Complesso Universitario di Monte S. Angelo, 80126 Napoli, Italia
6CIBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, InBIO, Laboratório Associado, Universidade do Porto,
Vairão, Portugal
7BIOPOLIS Program in Genomics, Biodiversity and Land Planning, CIBIO, 4485-661 Vairão, Portugal
8Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA
9Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Instituto de Genética Humana de Misiones (IGeHM), Parque
de la Salud de la Provincia de Misiones “Dr. Ramón Madariaga,” N3300KAZ Posadas, Misiones, Argentina
10Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, N3300LQH Posadas, Misiones, Argentina
11Centre d'Ecologie Fonctionnelle et Evolutive, Université de Montpellier, CNRS, EPHE, IRD, Montpellier, France
12Department of Ecology and Evolutionary Biology, Cornell University, Ithaca, New York 14853, USA
13CNRS, UMR 6553 Ecobio, OSUR, Université de Rennes, 35000 Rennes, France
Correspondence: claire.merotgmail.com; emma.berdangmail.com
Research on the genomic architecture of speciation has increasingly revealed the importance of structural variants (SVs) that
affect the presence, abundance, position, and/or direction of a nucleotide sequence. SVs include large chromosomal rearrangements
such as fusion/fissions and inversions and translocations, as well as smaller variants such as duplications, insertions, and
deletions (CNVs). Although we have ample evidence that SVs play a key role in speciation, the underlying mechanisms differ
depending on the type and length of the SV, as well as the ecological, demographic, and historical context. We review predictions
and empirical evidence for classic processes such as underdominance due to meiotic aberrations and the coupling effect of
recombination suppression before exploring how recent sequencing methodologies illuminate the prevalence and diversity of
SVs. We discuss specific properties of SVs and their impact throughout the genome, highlighting that multiple processes are
at play, and possibly interacting, in the relationship between SVs and speciation.
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