ArticleGenome research2012
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
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Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Beyond Single Variants: A Pathway-Based Approach to Explore the Genetic Basis of Memory.Molecular neurobiology · 2026Article
- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.American journal of human genetics · 2025Article
- Endogenous retroviruses are dysregulated in ALS.iScience · 2024Article
- Detection of an 8p23.1 Inversion Using High-Resolution Optical Genome Mapping.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.bioRxiv : the preprint server for biology · 2024Article
- T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.Genomics, proteomics & bioinformatics · 2023Article
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Pan-genome inversion index reveals evolutionary insights into the subpopulation structure of Asian rice.Nature communications · 2023Article
- Modeling of horizontal pleiotropy identifies possible causal gene expression in systemic lupus erythematosus.Frontiers in lupus · 2023Article
- Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Article
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.Science (New York, N.Y.) · 2022Article
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
- Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.Genes · 2021Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
Abstract
Genomic inversions are an increasingly recognized source of genetic variation. However, a lack of reliable high-throughput genotyping assays for these structures has precluded a full understanding of an inversion's phylogenetic, phenotypic, and population genetic properties. We characterize these properties for one of the largest polymorphic inversions in man (the ∼4.5-Mb 8p23.1 inversion), a structure that encompasses numerous signals of natural selection and disease association. We developed and validated a flexible bioinformatics tool that utilizes SNP data to enable accurate, high-throughput genotyping of the 8p23.1 inversion. This tool was applied retrospectively to diverse genome-wide data sets, revealing significant population stratification that largely follows a clinal "serial founder effect" distribution model. Phylogenetic analyses establish the inversion's ancestral origin within the Homo lineage, indicating that 8p23.1 inversion has occurred independently in the Pan lineage. The human inversion breakpoint was localized to an inverted pair of human endogenous retrovirus elements within the large, flanking low-copy repeats; experimental validation of this breakpoint confirmed these elements as the likely intermediary substrates that sponsored inversion formation. In five data sets, mRNA levels of disease-associated genes were robustly associated with inversion genotype. Moreover, a haplotype associated with systemic lupus erythematosus was restricted to the derived inversion state. We conclude that the 8p23.1 inversion is an evolutionarily dynamic structure that can now be accommodated into the understanding of human genetic and phenotypic diversity.
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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.