title: Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal.
abstract: 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.
authors.affiliation: Laboratory of Eukaryotic Molecular Genetics, MRC National Institute for Medical Research, Mill Hill, London, UK.
authors.forename: B
authors.initials: B
authors.lastname: Capel
authors.forename: C
authors.initials: C
authors.lastname: Rasberry
authors.forename: J
authors.initials: J
authors.lastname: Dyson
authors.forename: C E
authors.initials: CE
authors.lastname: Bishop
authors.forename: E
authors.initials: E
authors.lastname: Simpson
authors.forename: N
authors.initials: N
authors.lastname: Vivian
authors.forename: R
authors.initials: R
authors.lastname: Lovell-Badge
authors.forename: S
authors.initials: S
authors.lastname: Rastan
authors.forename: B M
authors.initials: BM
authors.lastname: Cattanach
mesh_terms: D000818:Animals; D001483:Base Sequence; D002872:Chromosome Deletion; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development; D005260:Female; D008297:Male; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D012733:Sex Differentiation / Q000235:genetics; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; C497746:Sry protein, mouse; D014157:Transcription Factors