M. Desposito et al., DIFFERENTIAL EXPRESSION PATTERN OF XQPAR-LINKED GENES SYBL1 AND IL9R CORRELATES WITH THE STRUCTURE AND EVOLUTION OF THE REGION, Human molecular genetics, 6(11), 1997, pp. 1917-1923
The recently discovered second pseudoautosomal region (XqPAR) contains
at least two genes, IL9R and SYBL1. Recent findings show that, like X
pPAR genes, IL9R escapes X inactivation and its Y allele is also expre
ssed, but SYBL1 seems to act like an X-linked gene, expressed from the
active X chromosome but not from the inactive X or Y. Here we show th
at differences are also seen in the evolution of the sex chromosome lo
cations of IL9R and SYBL1, IL9R is known to be autosomal in mice, and
is X-linked only in primates. SYBL1, however, has been found to be on
the X chromosome in all mammals tested, from marsupials to humans, Bot
h genes were duplicated on the Y homologue of the terminal portion of
the X chromosome during the evolution of Homo sapiens from other highe
r primates. The inactivation pattern of SYBL1 may be correlated with i
ts longer history of X linkage, and at a more centromeric chromosomal
position during evolution; the more recent X linkage and more telomeri
c position of the IL9R gene may explain its autosomal, 'uninactivated'
transcriptional status.