The Genomic Kaleidoscope: On the Hidden Dimensions of Within-Species Genomic Diversity

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Abstract
Genomic diversity within species encompasses a range of sequence-related, structural, and regulatory features. To illustrate their complexity, we invoke the analogy of a kaleidoscope: while the DNA sequence represents its core, the genome has a dynamic, multidimensional configuration shaped by interactions across these features, generating an array of dimensions of genomic variation. In this perspective, we highlight underexplored dimensions of genomic variation that contribute to phenotypic diversity. We begin by revisiting the existence of noncanonical chromosomes and by emphasizing the role of large-scale structural changes and the 3D genome architecture in modulating genomic function. We then examine the regulatory mechanisms shaping transcriptional activity and genetic variation that, instead of regulating mean trait values, defines the degree of trait variability. Finally, we discuss the influence of sequence composition on its mutational potential. These dimensions, though rooted in sequence, are context dependent, interconnected, and often difficult to disentangle, reflecting a level of structural and regulatory complexity that challenges traditional genotype–phenotype models. By synthesizing recent findings across these dimensions, we argue for a broader framework for studying within-species genomic diversity: one that accounts for the diverse molecular architectures underlying phenotypic output. This expanded view not only deepens our knowledge of the genome itself but also contributes to our understanding of genome evolution and within-species phenotypic variation.
Funding Information
  • Swiss National Science Foundation (207853, 31003A-163428)
  • Conahcyt (303068, 15758, 137721)
  • PAPPIT (IN210323)
  • EMBL Interdisciplinary Postdoc-Exploring Life in Context
  • Max Planck Society
  • Spanish Ministry of Economy, Industry and Competitiveness (CGL2014-54317-P, CGL2017-83802-P)
  • Spanish Ministry of Science and Innovation (PID2020-112557GB-I00)
  • AEI (AEI/10.13039/501100011033)
  • Agència de Gestió d’Ajuts Universitaris i de Recerca (2021 SGR 0122)
  • Catalan Institution for Research and Advanced Studies
  • Australian Research Council (FT240100691)
  • Novo Nordisk Fonden (NNF-21OC0070726)
  • HORIZON-TMA-MSCA-PF-EF (POPARCH—PID: 101064828)

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