ArticleGenome research2012
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 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
27 citing papers in PubMed, 44 citations in OpenAlex.
- Resolution of a human chromosomal mystery: Evolutionary complexity revealed.Cell genomics · 2026Article
- Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation.Cell genomics · 2026Article
- Origin and evolution of acrocentric chromosomes in human and great apes.bioRxiv : the preprint server for biology · 2025Article
- Epigenetic and evolutionary features of ape subterminal heterochromatin.bioRxiv : the preprint server for biology · 2025Article
- Complete sequencing of ape genomes.Nature · 2025Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Article
- PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.Genome biology · 2023Article
- Revised time estimation of the ancestral human chromosome 2 fusion.BMC genomics · 2022Article
- Telomere organization and the interstitial telomeric sites involvement in insects and vertebrates chromosome evolution.Genetics and molecular biology · 2022Article
- Review
- Recurrent inversion toggling and great ape genome evolution.Nature genetics · 2020Article
- The Telomere Paradox: Stable Genome Preservation with Rapidly Evolving Proteins.Trends in genetics : TIG · 2020Review
- High Satellite Repeat Turnover in Great Apes Studied with Short- and Long-Read Technologies.Molecular biology and evolution · 2019Article
- Evolutionary rates of mammalian telomere-stability genes correlate with karyotype features and female germline expression.Nucleic acids research · 2018Article
- Evolution of Brain Active Gene Promoters in Human Lineage Towards the Increased Plasticity of Gene Regulation.Molecular neurobiology · 2018Article
- Subtelomeres constitute a safeguard for gene expression and chromosome homeostasis.Nucleic acids research · 2017Article
- Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.Molecular biology and evolution · 2017Article
- One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Molecular cytogenetics · 2016Article
- Genome-wide analysis of tandem repeats in Tribolium castaneum genome reveals abundant and highly dynamic tandem repeat families with satellite DNA features in euchromatic chromosomal arms.DNA research : an international journal for rapid publication of reports on genes and genomes · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed primarily of arrays of tandem satellite sequence. We explore their sequence composition and organization and show a complex organization composed of specific sets of segmental duplications that have hyperexpanded in concert with the formation of subterminal satellites. These regions are highly copy number polymorphic between and within species, and copy number differences involving hundreds of copies can be accurately estimated by assaying read-depth of next-generation sequencing data sets. Phylogenetic and comparative genomic analyses suggest that the structures have arisen largely independently in the two lineages with the exception of a few seed sequences present in the common ancestor of humans and African apes. We propose a model where an ancestral human-chimpanzee pericentric inversion and the ancestral chromosome 2 fusion both predisposed and protected the chimpanzee and human genomes, respectively, to the formation of subtelomeric heterochromatin. Our findings highlight the complex interplay between duplicated sequences and chromosomal rearrangements that rapidly alter the cytogenetic landscape in a short period of evolutionary time.
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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.