Human Genetics

, Volume 88, Issue 4, pp 471–474

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

  • J. R. Hawkins
  • A. Taylor
  • P. Berta
  • J. Levilliers
  • B. Van der Auwera
  • P. N. Goodfellow
Short Communications

DOI: 10.1007/BF00215684

Cite this article as:
Hawkins, J.R., Taylor, A., Berta, P. et al. Hum Genet (1992) 88: 471. doi:10.1007/BF00215684

Summary

XY females (n=17) were analysed for mutations in SRY (sex-determining region Y gene), a gene that has recently been equated with the testis determining factor (TDF). SRY sequences were amplified by the polymerase chain reaction (PCR) and analysed by both the single strand conformational polymorphism assay (SSCP) and DNA sequencing. The DNA from two individuals gave altered SSCP patterns; only these two individuals showed any DNA sequence variation. In both cases, a single base change was found, one altering a tryptophan codon to a stop codon, the other causing a glycine to arginine amino acid substitution. These substitutions lie in the high mobility group (HMG)-related box of the SRY protein, a potential DNA-binding domain. The corresponding regions of DNA from the father of one individual and the paternal uncle of the other, were sequenced and found to be normal. Thus, in both cases, sex reversal is associated with de novo mutations in SRY. Combining this data with two previously published reports, a total of 40 XY females have now been analysed for mutations in SRY. The number of de novo mutations in SRY is now doubled to four, adding further strength to the argument that SRY is TDF.

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • J. R. Hawkins
    • 1
  • A. Taylor
    • 1
  • P. Berta
    • 2
  • J. Levilliers
    • 3
  • B. Van der Auwera
    • 4
  • P. N. Goodfellow
    • 1
  1. 1.Imperial Cancer Research Fund, Lincoln's Inn FieldsLondonUK
  2. 2.Centre de Recherches de Biochimie MacromoléculaireMontpellier CedexFrance
  3. 3.Unite de Recombinaison et Expression GénétiqueParis CedexFrance
  4. 4.Department of Medical GeneticsUniversity of Antwerp UIAAntwerpBelgium