Evidence map›Paper›PMID 41993273›Full record

ArticlebioRxiv : the preprint server for biology2026

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

Luciana de Gennaro, DongAhn Yoo, Letizia Pistacchia, Rosaria Magrone, Alessia Daponte, Francesco Perrone, Francesco Ravasini, F Kumara Mastrorosa, Keisuke K Oshima, Cesare Polano and 12 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Luciana de GennaroDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0009-0007-9572-7630
DongAhn YooDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-0033-3721
Letizia PistacchiaDepartment of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.ORCID 0009-0004-4437-1206
Rosaria MagroneDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.
Alessia DaponteDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0009-0000-1677-8333
Francesco PerroneDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0009-0008-4469-3386
Francesco RavasiniDepartment of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0003-2866-5533
F Kumara MastrorosaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-0579-1895
Keisuke K OshimaDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19103, USA.ORCID 0009-0002-2229-8998
Cesare PolanoDepartment of Agricultural, Food, Environmental and Animal Sciences, Via delle Scienze 206, University of Udine, 33100, Udine, Italy.ORCID 0000-0001-5612-9856
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8058-0177
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0001-8413-6498
Julie WertzDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0009-0000-3747-3221
Fabio MarroniDepartment of Agricultural, Food, Environmental and Animal Sciences, Via delle Scienze 206, University of Udine, 33100, Udine, Italy.ORCID 0000-0002-1556-5907
Claudia R CatacchioDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0000-0002-2166-723X
Francesca AntonacciDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0000-0002-5833-6186
Daan NoordermeerUniversité Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91190 Gif-sur-Yvette, France.ORCID 0000-0002-9296-7002
Francesco MontinaroDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0000-0002-4506-963X
Glennis A LogsdonDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19103, USA.ORCID 0000-0003-2396-0656
Beniamino TrombettaDepartment of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0001-8245-9437
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014
Mario VenturaDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70124, Italy.ORCID 0000-0001-7762-8777

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169
6 · The paper itself

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 α-satellite arrays to short, monomeric α-satellite tracts, alongside the emergence of neocentromeres lacking α-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.

Identifiers

PMID41993273
PMCPMC13081907

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.