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

Research output: Contribution to journalArticle

87 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)648-652
Number of pages5
JournalHuman Genetics
Volume99
Issue number5
DOIs
StatePublished - May 1997
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype'. Together they form a unique fingerprint.

  • Cite this

    Veitia, R., Ion, A., Barbaux, S., Jobling, M. A., Souleyreau, N., Ennis, K., Ostrer, H., Tosi, M., Meo, T., Chibani, J., Fellous, M., & McElreavey, K. (1997). Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Human Genetics, 99(5), 648-652. https://doi.org/10.1007/s004390050422