ArticlePLoS genetics2019
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 27 citations in OpenAlex.
- Complete sequencing of ape genomes.Nature · 2025Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Independent expansion, selection, and hypervariability of theGenome research · 2024Article
- Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Independent expansion, selection and hypervariability of thebioRxiv : the preprint server for biology · 2024Article
- Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.PloS one · 2024Article
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.International journal of molecular sciences · 2023Article
- Inversion polymorphism in a complete human genome assembly.Genome biology · 2023Article
- A high-resolution map of small-scale inversions in the gibbon genome.Genome research · 2022Article
- Article
- Epigenetic patterns in a complete human genome.Science (New York, N.Y.) · 2022Article
- Article
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.Genome research · 2020Article
- Recurrent inversion toggling and great ape genome evolution.Nature genetics · 2020Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
Abstract
Human chromosome 15q25 is involved in several disease-associated structural rearrangements, including microdeletions and chromosomal markers with inverted duplications. Using comparative fluorescence in situ hybridization, strand-sequencing, single-molecule, real-time sequencing and Bionano optical mapping analyses, we investigated the organization of the 15q25 region in human and nonhuman primates. We found that two independent inversions occurred in this region after the fission event that gave rise to phylogenetic chromosomes XIV and XV in humans and great apes. One of these inversions is still polymorphic in the human population today and may confer differential susceptibility to 15q25 microdeletions and inverted duplications. The inversion breakpoints map within segmental duplications containing core duplicons of the GOLGA gene family and correspond to the site of an ancestral centromere, which became inactivated about 25 million years ago. The inactivation of this centromere likely released segmental duplications from recombination repression typical of centromeric regions. We hypothesize that this increased the frequency of ectopic recombination creating a hotspot of hominid inversions where dispersed GOLGA core elements now predispose this region to recurrent genomic rearrangements associated with disease.
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.