ArticleProceedings of the National Academy of Sciences of the United States of America2012
Functional epialleles at an endogenous human centromere.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed.
- Phased T2T horse and donkey assemblies from a mule reveal peculiar equid centromere evolution.Cell genomics · 2026Article
- Unconventional centromere architectures in Tapirus indicus reveal hotspots for satellite-free centromere formation in Perissodactyla.Communications biology · 2026Article
- A genomic and epigenomic view of human centromeres.Nature reviews. Genetics · 2026Review
- Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres.bioRxiv : the preprint server for biology · 2025Article
- Rapid assembly of functional modules for generating human artificial chromosome constructs compatible with epigenetic centromere seeding.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- Cell line-matched reference enables high-precision functional genomics.Nature communications · 2025Article
- Rapid assembly of functional modules for generating human artificial chromosome constructs compatible with epigenetic centromere seeding.bioRxiv : the preprint server for biology · 2025Article
- DNA methylation influences human centromere positioning and function.Nature genetics · 2025Article
- CENP-A and centromere evolution in equids.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Review
- Defining a core configuration for human centromeres during mitosis.Nature communications · 2023Article
- Variation in the CENP-A sequence association landscape across diverse inbred mouse strains.Cell reports · 2023Article
- MLL methyltransferases regulate H3K4 methylation to ensure CENP-A assembly at human centromeres.PLoS biology · 2023Article
- Defining a core configuration for human centromeres during mitosis.bioRxiv : the preprint server for biology · 2023Article
- Epigenetic centromere identity is precisely maintained through DNA replication but is uniquely specified among human cells.Life science alliance · 2023Article
- Centromere drive: model systems and experimental progress.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2022Review
- Article
- Molecular Dynamics and Evolution of Centromeres in the Genus Equus.International journal of molecular sciences · 2022Review
- Complete genomic and epigenetic maps of human centromeres.Science (New York, N.Y.) · 2022Article
- Centromere Identity and the Regulation of Chromosome Segregation.Frontiers in cell and developmental biology · 2022Review
- Variation and Evolution of Human Centromeres: A Field Guide and Perspective.Annual review of genetics · 2021Review
1 more citing papers are in PubMed but not listed here.
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7 authors.
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Abstract
Human centromeres are defined by megabases of homogenous alpha-satellite DNA arrays that are packaged into specialized chromatin marked by the centromeric histone variant, centromeric protein A (CENP-A). Although most human chromosomes have a single higher-order repeat (HOR) array of alpha satellites, several chromosomes have more than one HOR array. Homo sapiens chromosome 17 (HSA17) has two juxtaposed HOR arrays, D17Z1 and D17Z1-B. Only D17Z1 has been linked to CENP-A chromatin assembly. Here, we use human artificial chromosome assembly assays to show that both D17Z1 and D17Z1-B can support de novo centromere assembly independently. We extend these in vitro studies and demonstrate, using immunostaining and chromatin analyses, that in human cells the centromere can be assembled at D17Z1 or D17Z1-B. Intriguingly, some humans are functional heterozygotes, meaning that CENP-A is located at a different HOR array on the two HSA17 homologs. The site of CENP-A assembly on HSA17 is stable and is transmitted through meiosis, as evidenced by inheritance of CENP-A location through multigenerational families. Differences in histone modifications are not linked clearly with active and inactive D17Z1 and D17Z1-B arrays; however, we detect a correlation between the presence of variant repeat units of D17Z1 and CENP-A assembly at the opposite array, D17Z1-B. Our studies reveal the presence of centromeric epialleles on an endogenous human chromosome and suggest genomic complexities underlying the mechanisms that determine centromere identity in humans.
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