ArticleGenome research2016
Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
63 citing papers in PubMed, 112 citations in OpenAlex.
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 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
- Centromere Landscapes Resolved from Hundreds of Human Genomes.Genomics, proteomics & bioinformatics · 2024Article
- Long-read genome assembly of the insect model organismGenome research · 2024Article
- The Structure of Simple Satellite Variation in the Human Genome and Its Correlation With Centromere Ancestry.Genome biology and evolution · 2024Article
- The Interaction of NF-κB Transcription Factor with Centromeric Chromatin.The journal of physical chemistry. B · 2024Article
- Article
- Three near-complete genome assemblies reveal substantial centromere dynamics from diploid to tetraploid in Brachypodium genus.Genome biology · 2024Article
- Article
- Variation in the CENP-A sequence association landscape across diverse inbred mouse strains.Cell reports · 2023Article
- The variation and evolution of complete human centromeres.bioRxiv : the preprint server for biology · 2023Article
- Satellitome analyses in nematodes illuminate complex species history and show conserved features in satellite DNAs.BMC biology · 2022Article
- Centromeres: From chromosome biology to biotechnology applications and synthetic genomes in plants.Plant biotechnology journal · 2022Review
- Comparative genomic analysis of the human genome and six bat genomes using unsupervised machine learning: Mb-level CpG and TFBS islands.BMC genomics · 2022Article
- Telomere-to-telomere human DNA replication timing profiles.Scientific reports · 2022Article
- DiMeLo-seq: a long-read, single-molecule method for mapping protein-DNA interactions genome wide.Nature methods · 2022Article
- Complete genomic and epigenetic maps of human centromeres.Science (New York, N.Y.) · 2022Article
- Epigenetic patterns in a complete human genome.Science (New York, N.Y.) · 2022Article
- CENP-A: A Histone H3 Variant with Key Roles in Centromere Architecture in Healthy and Diseased States.Results and problems in cell differentiation · 2022Article
3 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
5 authors at 1 institution in 1 country.
Funding
Abstract
Alpha satellite is a tandemly organized type of repetitive DNA that comprises 5% of the genome and is found at all human centromeres. A defined number of 171-bp monomers are organized into chromosome-specific higher-order repeats (HORs) that are reiterated thousands of times. At least half of all human chromosomes have two or more distinct HOR alpha satellite arrays within their centromere regions. We previously showed that the two alpha satellite arrays of Homo sapiens Chromosome 17 (HSA17), D17Z1 and D17Z1-B, behave as centromeric epialleles, that is, the centromere, defined by chromatin containing the centromeric histone variant CENPA and recruitment of other centromere proteins, can form at either D17Z1 or D17Z1-B. Some individuals in the human population are functional heterozygotes in that D17Z1 is the active centromere on one homolog and D17Z1-B is active on the other. In this study, we aimed to understand the molecular basis for how centromere location is determined on HSA17. Specifically, we focused on D17Z1 genomic variation as a driver of epiallele formation. We found that D17Z1 arrays that are predominantly composed of HOR size and sequence variants were functionally less competent. They either recruited decreased amounts of the centromere-specific histone variant CENPA and the HSA17 was mitotically unstable, or alternatively, the centromere was assembled at D17Z1-B and the HSA17 was stable. Our study demonstrates that genomic variation within highly repetitive, noncoding DNA of human centromere regions has a pronounced impact on genome stability and basic chromosomal function.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.