ArticlePLoS genetics2021
Evolutionary dynamics of the human pseudoautosomal regions.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
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- An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.Genome research · 2025Article
- Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.Einstein (Sao Paulo, Brazil) · 2025Article
- Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.Biology of sex differences · 2024Article
- Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome.Human molecular genetics · 2024Article
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- The evolutionary maintenance of ancient recombining sex chromosomes in the ostrich.PLoS genetics · 2023Article
- Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?Prenatal diagnosis · 2023Review
- Why does the X chromosome lag behind autosomes in GWAS findings?PLoS genetics · 2023Article
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Genomic and demographic processes differentially influence genetic variation across the human X chromosome.PloS one · 2023Article
- Recent expansion of the non-recombining sex-linked region on Silene latifolia sex chromosomes.Journal of evolutionary biology · 2022Article
- Evolutionary dynamics of pseudoautosomal region 1 in humans and great apes.Genome biology · 2022Article
- Genetics and Epigenetics of the X and Y Chromosomes in the Sexual Differentiation of the Brain.International journal of molecular sciences · 2022Review
- Review
- Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD.PLoS genetics · 2022Article
- ProteinEvolverABC: coestimation of recombination and substitution rates in protein sequences by approximate Bayesian computation.Bioinformatics (Oxford, England) · 2021Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recombination between the X and Y human sex chromosomes is limited to the two pseudoautosomal regions (PARs) that present quite distinct evolutionary origins. Despite the crucial importance for male meiosis, genetic diversity patterns and evolutionary dynamics of these regions are poorly understood. In the present study, we analyzed and compared the genetic diversity of the PAR regions using publicly available genomic sequences encompassing both PAR1 and PAR2. Comparisons were performed through allele diversities, linkage disequilibrium status and recombination frequencies within and between X and Y chromosomes. In agreement with previous studies, we confirmed the role of PAR1 as a male-specific recombination hotspot, but also observed similar characteristic patterns of diversity in both regions although male recombination occurs at PAR2 to a much lower extent (at least one recombination event at PAR1 and in ≈1% in normal male meioses at PAR2). Furthermore, we demonstrate that both PARs harbor significantly different allele frequencies between X and Y chromosomes, which could support that recombination is not sufficient to homogenize the pseudoautosomal gene pool or is counterbalanced by other evolutionary forces. Nevertheless, the observed patterns of diversity are not entirely explainable by sexually antagonistic selection. A better understanding of such processes requires new data from intergenerational transmission studies of PARs, which would be decisive on the elucidation of PARs evolution and their role in male-driven heterosomal aneuploidies.
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