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

Nat Genet. 1993 Nov;5(3):301-7. doi: 10.1038/ng1193-301.


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.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Deletion*
  • DNA Primers
  • DNA-Binding Proteins / genetics
  • Disorders of Sex Development*
  • Female
  • Male
  • Mice
  • Mice, Inbred Strains
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Sex Differentiation / genetics
  • Sex-Determining Region Y Protein
  • Transcription Factors*
  • X Chromosome*
  • Y Chromosome*


  • DNA Primers
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Sex-Determining Region Y Protein
  • Sry protein, mouse
  • Transcription Factors