Human Molecular Genetics, Vol 7, 1991-1996, Copyright © 1998 by Oxford University Press
JAM Graves, MJ Wakefield and R Toder
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.
REVIEWS
The origin and evolution of the pseudoautosomal regions of human sex chromosomes
School of Genetics and Human Variation, La Trobe University, Melbourne, Victoria 3083, Australia. j.graves@gen.latrobe.edu.au
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