ArticleNature genetics2014
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed.
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.Nature genetics · 2026Article
- Distinct mechanisms of CNV formation at the human 15q13.3 locus.bioRxiv : the preprint server for biology · 2026Article
- Article
- Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025Article
- 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
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Human-specific genetic hallmarks in neocortical development: focus on neural progenitors.Current opinion in genetics & development · 2024Review
- Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
- Review
- Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.PloS one · 2024Article
- Comparative Genomic Analysis of Asian Cultivated Rice and Its Wild Progenitor (International journal of molecular sciences · 2023Article
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.International journal of molecular sciences · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.Molecular psychiatry · 2023Article
- Evolution of genetic mechanisms regulating cortical neurogenesis.Developmental neurobiology · 2022Review
- Article
9 more citing papers are in PubMed but not listed here.
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19 authors.
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Abstract
Recurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. To gain insight into the instability of this region, we sequenced it in affected individuals, normal individuals and nonhuman primates. We discovered five structural configurations of the human chromosome 15q13.3 region ranging in size from 2 to 3 Mb. These configurations arose recently (∼0.5-0.9 million years ago) as a result of human-specific expansions of segmental duplications and two independent inversion events. All inversion breakpoints map near GOLGA8 core duplicons-a ∼14-kb primate-specific chromosome 15 repeat that became organized into larger palindromic structures. GOLGA8-flanked palindromes also demarcate the breakpoints of recurrent 15q13.3 microdeletions, the expansion of chromosome 15 segmental duplications in the human lineage and independent structural changes in apes. The significant clustering (P = 0.002) of breakpoints provides mechanistic evidence for the role of this core duplicon and its palindromic architecture in promoting the evolutionary and disease-related instability of chromosome 15.
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