ArticleProceedings of the National Academy of Sciences of the United States of America2007
A recurrent inversion on the eutherian X chromosome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 54 citations in OpenAlex.
- Distinct mechanisms of CNV formation at the human 15q13.3 locus.bioRxiv : the preprint server for biology · 2026Article
- The origin and maintenance of supergenes contributing to ecological adaptation in Atlantic herring.Nature communications · 2024Article
- Review
- Inversion polymorphism in a complete human genome assembly.Genome biology · 2023Article
- Inversions maintain differences between migratory phenotypes of a songbird.Nature communications · 2023Article
- A widespread inversion polymorphism conserved among Saccharomyces species is caused by recurrent homogenization of a sporulation gene family.PLoS genetics · 2022Article
- Article
- GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque.G3 (Bethesda, Md.) · 2021Article
- Large palindromes on the primate X Chromosome are preserved by natural selection.Genome research · 2021Article
- Article
- Recurrent inversion toggling and great ape genome evolution.Nature genetics · 2020Article
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- The molecular genealogy of sequential overlapping inversions implies both homologous chromosomes of a heterokaryotype in an inversion origin.Scientific reports · 2019Article
- Origin and Consequences of Chromosomal Inversions in the virilis Group of Drosophila.Genome biology and evolution · 2018Article
- A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2014Article
- Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.PLoS genetics · 2014Article
- Striking structural dynamism and nucleotide sequence variation of the transposon Galileo in the genome of Drosophila mojavensis.Mobile DNA · 2013Article
- On the structural plasticity of the human genome: chromosomal inversions revisited.Current genomics · 2012Article
- Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution.BMC genomics · 2012Article
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Nature genetics · 2011Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Chromosomal inversions have an important role in evolution, and an increasing number of inversion polymorphisms are being identified in the human population. The evolutionary history of these inversions and the mechanisms by which they arise are therefore of significant interest. Previously, a polymorphic inversion on human chromosome Xq28 that includes the FLNA and EMD loci was discovered and hypothesized to have been the result of nonallelic homologous recombination (NAHR) between near-identical inverted duplications flanking this region. Here, we carried out an in-depth study of the orthologous region in 27 additional eutherians and report that this inversion is not specific to humans, but has occurred independently and repeatedly at least 10 times in multiple eutherian lineages. Moreover, inverted duplications flank the FLNA-EMD region in all 16 species for which high-quality sequence assemblies are available. Based on detailed sequence analyses, we propose a model in which the observed inverted duplications originated from a common duplication event that predates the eutherian radiation. Subsequent gene conversion homogenized the duplications, thereby providing a continuous substrate for NAHR that led to the recurrent inversion of this segment of the genome. These results provide an extreme example in support of the evolutionary breakpoint reusage hypothesis and point out that some near-identical human segmental duplications may, in fact, have originated >100 million years ago.
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