The origin and evolution of the pseudoautosomal regions of human sex chromosomes

Abstract

The human X and Y chromosomes share two homologous pseudoautosomal regions (PARs) which pair and recombine at meiosis. PAR1 lies at the tips of the short arms, and the smaller PAR2 at the tips of the long arms. PAR1 contains several active genes, and has been thought to be critical for pairing and fertility. The inconsistent gene content of the PARs between different species of eutherian ('placental') mammals suggests that gene content is immaterial to function, and the failure to detect a PAR at all in some rodents and all marsupials implies that homologous pairing is not universally essential for fertility. The autosomal localization of marsupial homologues of human PAR1 genes and their co-localization with human Xp22 genes implies that the human PAR1 represents a relic of part of an autosomal region added to both X and Y chromosomes between 80 and 130 MYrBP. The same argument may be made for part of PAR2. Independent additions to the sex chromosomes of macropodid marsupials and monotremes can also be inferred from comparative mapping. We conclude that the PARs are relics of differential additions, loss, rearrangement and degradation of the Y chromosome in different mammalian lineages.