B. Capel et al., DELETION OF Y-CHROMOSOME SEQUENCES LOCATED OUTSIDE THE TESTIS-DETERMINING REGION CAN CAUSE XY FEMALE SEX REVERSAL, Nature genetics, 5(3), 1993, pp. 301-307
An approach designed to map and generate mutations in the region of th
e short arm of the mouse Y chromosome, known to be involved in sex det
ermination and spermatogenesis, is described. This relies on homologou
s Yp-Sxr(a) pairing and asymmetrical exchange which can occur at meios
is in XY males carrying Sxr(a) on their X chromosome. Such exchange po
tentially generates deficiencies and duplications of Yp or Sxr(a). Thr
ee fertile XY females were found out of about 450 XY offspring from XS
xr(a)/Y x XX crosses. In all three, despite evidence for deletion of Y
chromosomal material, the Sry locus was intact. Each deletion involve
d a repeat sequence, Sx1, located at a distance from Sry. Since expres
sion of Sry was affected these results suggest that long range positio
n effects have disrupted Sry action.