TY - JOUR
T1 - Genomes From 117 Vertebrate Species Reveal Rapidly Evolving Segmental-Duplication Landscapes
AU - Aqil, Alber
AU - Islam, Saiful
AU - Hach, Faraz
AU - Numanagić, Ibrahim
AU - Masuda, Naoki
AU - Gokcumen, Omer
N1 - Publisher Copyright:
© The Author(s) 2026. Published by Oxford University Press on behalf of Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
PY - 2026/7
Y1 - 2026/7
N2 - Segmental duplications are major drivers of evolutionary innovation; yet, their dynamics across vertebrates remain poorly understood. Here, we identify segmental duplications from long-read-sequenced genomes of 117 vertebrates and one starfish, generating the largest multispecies dataset of its kind. We find that vertebrate genomes show a higher propensity for tandem duplications than for interspersed duplications. However, when focusing only on subtelomeric regions, avian and mammalian genomes show the opposite propensity toward interspersed duplications. We also observe that, across vertebrates, tandem duplications tend to be larger than interspersed duplications. Next, we construct a segmental-duplication network for each species and use network-derived metrics to quantify the duplication landscape for that species. We then compute interspecies distances for each metric and find that these distances show at most weak correlations with phylogenetic distance, indicating that segmental-duplication landscapes evolve rapidly. Functional-enrichment analysis of hyperduplicated genes reveals a strong enrichment in platypus for pheromone response, driven by the expansion of the vomeronasal pheromone receptor V1R gene family. Overall, our results uncover the general properties of vertebrate segmental duplications, demonstrate the lability of segmental-duplication landscapes, and highlight the utility of network-based approaches for studying genome evolution.
AB - Segmental duplications are major drivers of evolutionary innovation; yet, their dynamics across vertebrates remain poorly understood. Here, we identify segmental duplications from long-read-sequenced genomes of 117 vertebrates and one starfish, generating the largest multispecies dataset of its kind. We find that vertebrate genomes show a higher propensity for tandem duplications than for interspersed duplications. However, when focusing only on subtelomeric regions, avian and mammalian genomes show the opposite propensity toward interspersed duplications. We also observe that, across vertebrates, tandem duplications tend to be larger than interspersed duplications. Next, we construct a segmental-duplication network for each species and use network-derived metrics to quantify the duplication landscape for that species. We then compute interspecies distances for each metric and find that these distances show at most weak correlations with phylogenetic distance, indicating that segmental-duplication landscapes evolve rapidly. Functional-enrichment analysis of hyperduplicated genes reveals a strong enrichment in platypus for pheromone response, driven by the expansion of the vomeronasal pheromone receptor V1R gene family. Overall, our results uncover the general properties of vertebrate segmental duplications, demonstrate the lability of segmental-duplication landscapes, and highlight the utility of network-based approaches for studying genome evolution.
KW - biological networks
KW - interspersed duplication
KW - platypus
KW - segmental-duplication networks
KW - tandem duplication
KW - vertebrate evolution
UR - https://www.scopus.com/pages/publications/105045992261
U2 - 10.1093/gbe/evag043
DO - 10.1093/gbe/evag043
M3 - Article
C2 - 41755628
AN - SCOPUS:105045992261
SN - 1759-6653
VL - 18
JO - Genome Biology and Evolution
JF - Genome Biology and Evolution
IS - 7
M1 - evag043
ER -