ArticleCell2026
Human acrocentric chromosome short-arm de novo mutation and recombination.
Article in Cell, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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.
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Who cites it
5 citing papers in PubMed.
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- Rapid centromere turnover and the adaptive radiation of lemurs.bioRxiv : the preprint server for biology · 2026Article
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- Origin and evolution of acrocentric chromosomes in human and great apes.bioRxiv : the preprint server for biology · 2025Article
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15 authors.
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Abstract
Highly repetitive short arms of human acrocentric chromosomes have remained largely inaccessible to studies of meiotic recombination and de novo mutation. Integrating long-read and complementary sequencing approaches, we created 156 phased short arms and assessed 107 transmissions from 23 samples in a four-generation human pedigree. We observed a significant depletion of p-arm allelic recombination, although one ectopic recombination was identified between chromosomes 13 and 21, mediated by a large segmental duplication near the SST1 array. In contrast, 18 maternal-biased q-arm allelic recombination events were significantly enriched near the centromere. Relative to autosomal euchromatin, acrocentric short arms showed a 10-fold higher single-nucleotide variant rate, with a distinct mutation spectrum marked by reduced C>T but increased C>G and A>C mutations. These findings suggest that acrocentric sequence composition biases and limited allelic recombination contribute to an elevated mutation rate and promote distinct mutational processes linked to mismatch repair defects and oxidative DNA damage.
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