ArticleGenome biology and evolution2009
Footprints of inversions at present and past pseudoautosomal boundaries in human sex chromosomes.
Article in Genome biology and evolution, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53 citing papers in PubMed.
- Sex chromosome evolution mediated by a large inversion and a possible switch of the sex determination gene.Genome biology · 2026Article
- Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration.Molecular ecology · 2026Article
- Extensive Recombination Suppression and Genetic Degeneration of a Young ZW Sex Chromosome System in Halfbeak Fish.Molecular biology and evolution · 2025Article
- Global modulation of gene expression and transcriptome size in aneuploid combinations of maize.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.PLoS genetics · 2025Article
- Evolution and regulation of animal sex chromosomes.Nature reviews. Genetics · 2025Review
- Investigation of sex determination in starry flounder (Zoological research · 2024Article
- Sex Chromosome Evolution: Hallmarks and Question Marks.Molecular biology and evolution · 2024Review
- New algorithms for structure informed genome rearrangement.Algorithms for molecular biology : AMB · 2023Article
- Article
- Independent Evolution of Sex Chromosomes and Male Pregnancy-Related Genes in Two Seahorse Species.Molecular biology and evolution · 2023Article
- Genomic and demographic processes differentially influence genetic variation across the human X chromosome.PloS one · 2023Article
- Chromosome-scale assemblies of the male and female Populus euphratica genomes reveal the molecular basis of sex determination and sexual dimorphism.Communications biology · 2022Article
- Sheltering of deleterious mutations explains the stepwise extension of recombination suppression on sex chromosomes and other supergenes.PLoS biology · 2022Article
- Representing sex chromosomes in genome assemblies.Cell genomics · 2022Article
- Schistosome W-Linked Genes Inform Temporal Dynamics of Sex Chromosome Evolution and Suggest Candidate for Sex Determination.Molecular biology and evolution · 2021Article
- A large chromosomal inversion shapes gene expression in seaweed flies (Evolution letters · 2021Article
- Chromosomal Inversion Polymorphisms in Two Sympatric Ascidian Lineages.Genome biology and evolution · 2021Article
- Spectroscopic and Molecular Methods to Differentiate Gender in Immature Date Palm (Plants (Basel, Switzerland) · 2021Article
- Article
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6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
The human sex chromosomes have stopped recombining gradually, which has left five evolutionary strata on the X chromosome. Y inversions are thought to have suppressed X-Y recombination but clear evidence is missing. Here, we looked for such evidence by focusing on a region--the X-added region (XAR)--that includes the pseudoautosomal region and the most recent strata 3 to 5. We estimated and analyzed the whole set of parsimonious scenarios of Y inversions given the gene order in XAR and its Y homolog. Comparing these to scenarios for simulated sequences suggests that the strata 4 and 5 were formed by Y inversions. By comparing the X and Y DNA sequences, we found clear evidence of two Y inversions associated with duplications that coincide with the boundaries of strata 4 and 5. Divergence between duplicates is in agreement with the timing of strata 4 and 5 formation. These duplicates show a complex pattern of gene conversion that resembles the pattern previously found for AMELXY, a stratum 3 locus. This suggests that this locus--despite AMELY being unbroken--was possibly involved in a Y inversion that formed stratum 3. However, no clear evidence supporting the formation of stratum 3 by a Y inversion was found, probably because this stratum is too old for such an inversion to be detectable. Our results strongly support the view that the most recent human strata have arisen by Y inversions and suggest that inversions have played a major role in the differentiation of our sex chromosomes.
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