ArticleNature2005
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication.
Article in Nature, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 225 papers.
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Who cites it
225 citing papers in PubMed.
- Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.iScience · 2026Article
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- HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.bioRxiv : the preprint server for biology · 2026Article
- Paralogs of thebioRxiv : the preprint server for biology · 2026Article
- Germline hypomethylation shapes dynamic CpG reservoirs in ape genomes.bioRxiv : the preprint server for biology · 2026Article
- Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring.Molecular biology and evolution · 2026Article
- Genomes From 117 Vertebrate Species Reveal Rapidly Evolving Segmental-Duplication Landscapes.Genome biology and evolution · 2026Article
- The emergence and diversification of the DUX gene family across placental mammals.Communications biology · 2026Article
- Single-molecule variation in telomeric sequence and structure across humans.bioRxiv : the preprint server for biology · 2026Article
- Evolution of genomic architecture of the plant-pathogenic fungusMicrobial genomics · 2026Article
- Asymmetric evolution of satellite DNA on homologous and homeologous chromosomes in allotetraploid Narenga porphyrocoma.BMC plant biology · 2026Article
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- Segmentally duplicated regulatory elements undergo human-specific rewiring.bioRxiv : the preprint server for biology · 2025Article
- Genomes from 117 vertebrate species reveal rapidly evolving segmental duplication landscapes.bioRxiv : the preprint server for biology · 2025Article
- Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.Nature communications · 2025Article
- A Comparative Bioinformatic Investigation of the Rubisco Small Subunit Gene Family in True Grasses Reveals Novel Targets for Enhanced Photosynthetic Efficiency.International journal of molecular sciences · 2025Article
- Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders.European journal of human genetics : EJHG · 2025Article
- Maltose and Maltotriose Transporters in Brewer'sInternational journal of molecular sciences · 2025Review
- Histone deacetylation as a landmark for Sgo2 relocation from centromeres to subtelomeres during interphase.iScience · 2025Article
- Epigenetic and evolutionary features of ape subterminal heterochromatin.bioRxiv : the preprint server for biology · 2025Article
165 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Human subtelomeres are polymorphic patchworks of interchromosomal segmental duplications at the ends of chromosomes. Here we provide evidence that these patchworks arose recently through repeated translocations between chromosome ends. We assess the relative contribution of the principal mechanisms of ectopic DNA repair to the formation of subtelomeric duplications and find that non-homologous end-joining predominates. Once subtelomeric duplications arise, they are prone to homology-based sequence transfers as shown by the incongruent phylogenetic relationships of neighbouring sections. Interchromosomal recombination of subtelomeres is a potent force for recent change. Cytogenetic and sequence analyses reveal that pieces of the subtelomeric patchwork have changed location and copy number with unprecedented frequency during primate evolution. Half of the known subtelomeric sequence has formed recently, through human-specific sequence transfers and duplications. Subtelomeric dynamics result in a gene duplication rate significantly higher than the genome average and could have both advantageous and pathological consequences in human biology. More generally, our analyses suggest an evolutionary cycle between segmental polymorphisms and genome rearrangements.
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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.