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.

doi:10.64898/2026.04.09.717302

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bioRxiv · 10.64898/2026.04.09.717302

A segmental duplication-mediated deletion leads to neocentromere formation in orangutans

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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.

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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.. 2026-04-11. A segmental duplication-mediated deletion leads to neocentromere formation in orangutans. https://doi.org/10.64898/2026.04.09.717302

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