ArticlePLoS genetics2015
Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Pooled it
- Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.Nature communications · 2019Pooled it
- Recombination landscape shaped by inversion polymorphisms: a high-density linkage map and chromosome-level assembly of inversion-rich spruce bark beetle genome.G3 (Bethesda, Md.) · 2026Article
- Inversions encounter relaxed genetic constraints and balance birth and death of TPS genes in Curcuma.Nature communications · 2024Article
- Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.Molecular cytogenetics · 2023Article
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.Scientific reports · 2022Article
- Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry.Current diabetes reports · 2021Review
- Genome structure variation analyses of peach reveal population dynamics and a 1.67 Mb causal inversion for fruit shape.Genome biology · 2021Article
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.BMC genomics · 2019Article
- Evolutionary and functional impact of common polymorphic inversions in the human genome.Nature communications · 2019Article
- Systems genetic analysis of inversion polymorphisms in the malaria mosquitoProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Article
- An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.Neurobiology of aging · 2018Article
- Mutagenic repair of double-stranded DNA breaks in vaccinia virus genomes requires cellular DNA ligase IV activity in the cytosol.The Journal of general virology · 2018Article
- Partial-arm translocations in evolution of malaria mosquitoes revealed by high-coverage physical mapping of the Anopheles atroparvus genome.BMC genomics · 2018Article
- Inversion evolutionary rates might limit the experimental identification of inversion breakpoints in non-model species.Scientific reports · 2017Article
- Impacts of dietary exposure to sodium or potassium salts of nitrate and nitrite on the development ofInterdisciplinary toxicology · 2017Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. Here we present a global analysis of a new 415-kb polymorphic inversion that is among the longest ones found in humans and is the first with clear position effects. This inversion is located in chromosome 19 and has been generated by non-homologous end joining between blocks of transposable elements with low identity. PCR genotyping in 541 individuals from eight different human populations allowed the detection of tag SNPs and inversion genotyping in multiple populations worldwide, showing that the inverted allele is mainly found in East Asia with an average frequency of 4.7%. Interestingly, one of the breakpoints disrupts the transcription factor gene ZNF257, causing a significant reduction in the total expression level of this gene in lymphoblastoid cell lines. RNA-Seq analysis of the effects of this expression change in standard homozygotes and inversion heterozygotes revealed distinct expression patterns that were validated by quantitative RT-PCR. Moreover, we have found a new fusion transcript that is generated exclusively from inverted chromosomes around one of the breakpoints. Finally, by the analysis of the associated nucleotide variation, we have estimated that the inversion was generated ~40,000-50,000 years ago and, while a neutral evolution cannot be ruled out, its current frequencies are more consistent with those expected for a deleterious variant, although no significant association with phenotypic traits has been found so far.
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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.