4.6 Article

Genomic and demographic processes differentially influence genetic variation across the human X chromosome

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Evolutionary dynamics of the human pseudoautosomal regions

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Summary: Recombination between the X and Y human sex chromosomes is limited to pseudoautosomal regions (PARs) with distinct evolutionary origins. Despite being crucial for male meiosis, the genetic diversity and evolutionary dynamics of PAR regions are poorly understood. This study analyzed and compared the genetic diversity of PAR regions, finding similar patterns in both PAR1 and PAR2 despite differences in male recombination rates. The observed differences in allele frequencies between X and Y chromosomes in PARs suggest that recombination is not enough to homogenize the gene pool, raising questions about underlying evolutionary forces such as selection. New data from intergenerational transmission studies of PARs are needed to better understand their evolution and role in male-driven aneuploidies.

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