A segmental duplication-mediated deletion leads to neocentromere formation in orangutans
De Gennaro, L.; Yoo, D.; Pistacchia, L.; Magrone, R.; Daponte, A.; Perrone, F.; Ravasini, F.; Mastrorosa, K. F.; Oshima, K. K.; Polano, C.; Hoekzema, K.; Munson, K. M.; Wertz, J.; Marroni, F.; Catacchio, C. R.; Antonacci, F.; Noordermeer, D.; Montinaro, F.; Logsdon, G. A.; Trombetta, B.; Eichler, E. E.; Ventura, M.
Show abstract
Centromeres ensure faithful chromosome segregation, yet how new centromeres arise and replace canonical ones remains poorly understood. Here, we investigate a polymorphic centromere repositioning event on the orangutan chromosome 10 using near-telomere-to-telomere assemblies, epigenetic profiling, and population-scale data. We identify striking heterogeneity in canonical centromeres, ranging from large, higher-order repeat -satellite arrays to short, monomeric -satellite tracts, alongside the emergence of neocentromeres lacking -satellite DNA. We show a segmental duplication-mediated deletion of 3.6 Mbp that removed the higher-order repeat array, promoting centromere repositioning and neocentromere formation. Phylogenetic analyses reveal complex evolutionary dynamics, including introgression and incomplete lineage sorting in orangutan lineages. These findings demonstrate that centromere identity can evolve through structural variation and epigenetic reprogramming, highlighting its remarkable plasticity in primate genomes.
Matching journals
The top 2 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
Similar papers in this journal
- Transposable elements strongly contribute to cell-specific and species-specific looping diversity in mammalian genomes. 95%
- Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. 95%
- Neuron-Specific Chromosomal Megadomain Organization Is Adaptive To Recent Retrotransposon Expansions 94%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.