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Publication : Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal.

First Author  Capel B Year  1993
Journal  Nat Genet Volume  5
Issue  3 Pages  301-7
PubMed ID  8275095 Mgi Jnum  J:15425
Mgi Id  MGI:63547 Doi  10.1038/ng1193-301
Citation  Capel B, et al. (1993) Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. Nat Genet 5(3):301-7
abstractText  An approach designed to map and generate mutations in the region of the short arm of the mouse Y chromosome, known to be involved in sex determination and spermatogenesis, is described. This relies on homologous Yp-Sxra pairing and asymmetrical exchange which can occur at meiosis in XY males carrying Sxra on their X chromosome. Such exchange potentially generates deficiencies and duplications of Yp or Sxra. Three fertile XY females were found out of about 450 XY offspring from XSxra/Y x XX crosses. In all three, despite evidence for deletion of Y chromosomal material, the Sry locus was intact. Each deletion involved a repeat sequence, Sx1, located at a distance from Sry. Since expression of Sry was affected these results suggest that long range position effects have disrupted Sry action.
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