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Claudia Rita Catacchio1, Flavia Angela Maria Maggiolini1, Pietro D'Addabbo1

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This study identifies numerous evolutionary inversions and assembly errors in primate genomes. These findings provide a valuable resource for understanding primate evolution and improving genomic accuracy for biomedical research.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Comparative Genomics

Background:

  • Chromosomal inversions are significant genomic differences among primates, potentially driving speciation by suppressing recombination.
  • Classical cytogenetics can identify large inversions but lacks resolution for precise mapping.
  • Understanding these large-scale genomic rearrangements is crucial for comparative evolutionary and biomedical studies.

Purpose of the Study:

  • To perform a comprehensive genome-wide comparison of human, great ape, and macaque genomes to identify evolutionary inversions.
  • To discover and validate new inversions and identify misassembled regions in primate reference genomes.
  • To create a valuable resource for evolutionary and biomedical research by mapping inversions and assembly errors.

Main Methods:

  • Genome-wide comparison using net alignments of the latest genome assemblies for human, great apes, and macaques.
  • Integration of literature, sequence, and experimental analyses to validate identified inversions.
  • Identification of misassembled regions by detecting incorrectly oriented DNA sequences.

Main Results:

  • Identified 156 putative inversions (103 kb–91 Mb) and validated 67 inverted regions across primate species, including 28 novel inversions.
  • Discovered 74 misassembled regions totaling over 300 Mb, impacting 1978 human genes.
  • Found that 81 human genes are located at inversion breakpoints, with seven associated with recurrent rearrangements and human diseases.

Conclusions:

  • This research significantly expands the catalog of validated primate inversions larger than 100 kb.
  • The identified inversions and misassembled regions offer critical insights into primate evolution and genomic architecture.
  • Accurate annotation of these genomic features is essential for advancing evolutionary and biomedical studies in primates.