Human Genetics

, Volume 99, Issue 5, pp 648–652

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

  • R. Veitia
  • A. Ion
  • S. Barbaux
  • M. A. Jobling
  • N. Souleyreau
  • K. Ennis
  • H. Ostrer
  • M. Tosi
  • T. Meo
  • J. Chibani
  • M. Fellous
  • K. McElreavey
Original investigation

DOI: 10.1007/s004390050422

Cite this article as:
Veitia, R., Ion, A., Barbaux, S. et al. Hum Genet (1997) 99: 648. doi:10.1007/s004390050422

Abstract

The testis-determining gene SRY (sex determining region, Y) is located on the short arm of the Y chromosome and consists of a single exon, the central third of which is predicted to encode a conserved motif with DNA binding/bending properties. We describe the screening of 26 patients who presented with 46,XY partial or complete gonadal dysgenesis for mutations in both the SRY open reading frame (ORF) and in 3.8 kb of Y-specific flanking sequences. DNA samples were screened by using the fluorescence-assisted mismatch analysis (FAMA) method. In two patients, de novo mutations causing complete gonadal dysgenesis were detected in the SRY ORF. One was a nonsense mutation 5′ to the HMG box, whereas the other was a missense substitution located at the C terminus of the conserved motif and identical to one previously detected in an unrelated patient. In addition, two Y-specific polymorphisms were found 5′ to the SRY gene, and a sequence variant was identified 3′ to the SRY polyadenylation site. No duplications of the DSS region in 20 of these patients were detected.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • R. Veitia
    • 1
  • A. Ion
    • 2
  • S. Barbaux
    • 1
  • M. A. Jobling
    • 3
  • N. Souleyreau
    • 1
  • K. Ennis
    • 4
  • H. Ostrer
    • 5
  • M. Tosi
    • 6
  • T. Meo
    • 6
  • J. Chibani
    • 7
  • M. Fellous
    • 1
  • K. McElreavey
    • 1
  1. 1.Unité d’Immunogénétique Humaine, Institut Pasteur, 25 Rue du Dr. Roux, F-75724 Paris, France Tel.: +33-1-45-68-89-20; Fax: +33-1-40-61-31-53; email: kenmce@pasteur.frFR
  2. 2.Laboratoire de Cytogénétique Constitutionnelle, Hôpital St. Vincent de Paul, Paris, FranceVC
  3. 3.Department of Genetics, University of Leicester, Leicester, UKGB
  4. 4.Department of Medical Genetics, Belfast City Hospital, Belfast, UKGB
  5. 5.Division of Human Genetics, Department of Pediatrics, New York University Medical Center, New York, USAUS
  6. 6.Unité d’Immunogénétique, Institut Pasteur, Paris, FranceFR
  7. 7.Laboratoire de Biochimie, Faculté de Pharmacie, Monastir, Tunis

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