Inversion variants in human and primate genomes

Genome Research
Claudia R CatacchioFrancesca Antonacci

Abstract

For many years, inversions have been proposed to be a direct driving force in speciation since they suppress recombination when heterozygous. Inversions are the most common large-scale differences among humans and great apes. Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed a genome-wide comparison between human, great ape, and macaque genomes using the net alignments for the most recent releases of genome assemblies. We identified a total of 156 putative inversions, between 103 kb and 91 Mb, corresponding to 136 human loci. Combining literature, sequence, and experimental analyses, we analyzed 109 of these loci and found 67 regions inverted in one or multiple primates, including 28 newly identified inversions. These events overlap with 81 human genes at their breakpoints, and seven correspond to sites of recurrent rearrangements associated with human disease. This work doubles the number of validated primate inversions larger than 100 kb, beyond what was previously documented. We identified 74 sites of errors, where the sequence has been assembled in the wrong orientation, in the reference genomes analyzed. Our data serve two p...Continue Reading

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Citations

Feb 23, 2020·Genes·Flavia Angela Maria MaggioliniMario Ventura
Mar 28, 2019·PLoS Genetics·Flavia A M MaggioliniFrancesca Antonacci
Jun 21, 2019·Cytogenetic and Genome Research·Hirohisa HiraiAnthony J Tosi
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Jun 17, 2020·Nature Genetics·David PorubskyEvan E Eichler
Nov 15, 2020·International Journal of Molecular Sciences·Ilaria CatusiMaria Paola Recalcati
Aug 31, 2021·Frontiers in Genetics·Aisha YousafHua Chen

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