Study maps centromere diversity across human genomes, revealing unexpected structural variation
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An international research team has produced detailed maps of the chromosomal regions essential for cell division, uncovering an unexpected degree of structural diversity across human populations. The findings, posted on the preprint server bioRxiv, challenge the longstanding assumption that centromeres and their surrounding sequences are largely uniform. The study identifies hundreds of previously unknown structural variants that may influence chromosome segregation and genome stability.
Centromere Mapping
The preprint, led by J.K. Lucas and colleagues, assembled complete maps of centromeric and pericentromeric regions across more than 100 human genomes from diverse ancestries. Using long-read sequencing and advanced assembly algorithms, the team resolved satellite repeat arrays and segmental duplications that had been opaque to short-read technologies. The project builds on foundational work by the Telomere-to-Telomere Consortium and recent centromere annotation efforts by Porubsky et al. (2025) and Altemose et al. (2022).
Structural Diversity
The maps exposed a landscape of complex structural variation, including large expansions and contractions of alpha-satellite repeats, inversions, and novel insertions. Across the cohort, centromere length varied by up to fivefold on some chromosomes, with African ancestry genomes showing the highest diversity. The study catalogued over 1,200 distinct structural haplotypes, many affecting the binding sites for kinetochore proteins essential for chromosome segregation.
What's Next
The Lucas team plans to integrate these maps with phenotypic data to explore links between centromere variation and fertility disorders or cancers driven by chromosome instability. It remains unclear how functional constraints shape this diversity or whether certain haplotypes confer evolutionary advantages.
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Study maps centromere diversity across human genomes, revealing unexpected structural variation
