ArticlePloS one2009
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Beyond Single Variants: A Pathway-Based Approach to Explore the Genetic Basis of Memory.Molecular neurobiology · 2026Article
- Benchmark for simple and complex genome inversions.bioRxiv : the preprint server for biology · 2025Article
- Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Identifying novel genetic loci associated with polycystic ovary syndrome based on its shared genetic architecture with type 2 diabetes.Frontiers in genetics · 2022Article
- Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.Journal of medical genetics · 2017Article
- Human inversions and their functional consequences.Briefings in functional genomics · 2015Review
- Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.Nature genetics · 2015Article
- Genome-wide association tests of inversions with application to psoriasis.Human genetics · 2014Article
- On the structural plasticity of the human genome: chromosomal inversions revisited.Current genomics · 2012Article
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.American journal of medical genetics. Part A · 2012Article
- The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.Genome research · 2012Article
- Identification of polymorphic inversions from genotypes.BMC bioinformatics · 2012Article
- High rates of de novo 15q11q13 inversions in human spermatozoa.Molecular cytogenetics · 2012Article
- Investigation of inversion polymorphisms in the human genome using principal components analysis.PloS one · 2012Article
- An overview of the genetic structure within the Italian population from genome-wide data.PloS one · 2012Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe human chromosome 8p23.1 region contains a 3.8-4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals.
resultsWe have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH.
conclusionBy means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.
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