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February 28, 2026Genome Biology and Evolution1 citationsOpen Access

Genomes from 117 vertebrate species reveal rapidly evolving segmental-duplication landscapes

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AAAlber AqilSISaiful Islam‎FHFaraz Hach

Key Points

  • This research aims to understand the dynamics of segmental duplications in vertebrate genomes by analyzing a large dataset.
  • Generated a dataset of segmental duplications from genomes of 117 vertebrates and one starfish.
  • Analyzed duplication types, focusing on tandem and interspersed duplications.
  • Constructed segmental-duplication networks for each species and quantified duplication landscapes.
  • Computed interspecies distances and correlated them with phylogenetic distances.
  • Vertebrate genomes exhibit a higher frequency of tandem duplications compared to interspersed duplications.
  • In subtelomeric regions, avian and mammalian genomes show a preference for interspersed duplications instead.
  • Tandem duplications were found to be generally larger than interspersed duplications across vertebrates.
  • Interspecies distances showed weak correlations with phylogenetic distances, indicating rapid evolution in duplication landscapes.
  • Functional enrichment analysis indicated a strong enrichment of hyper-duplicated genes in platypus related to pheromone response.

Abstract

Abstract 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 multi-species 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 hyper-duplicated 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.

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Cite This Study

Aqil et al. (2026) studied this question.

synapsesocial.com/papers/69a288060a974eb0d3c03f61https://doi.org/10.1093/gbe/evag043
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