A familial mutation in the testis-determining gene SRY shared by both sexes

@article{Jger1992AFM,
  title={A familial mutation in the testis-determining gene SRY shared by both sexes},
  author={Ralf J. J{\"a}ger and Vincent R Harley and Rudolf Arthur Pfeiffer and Peter N. Goodfellow and Gerd Scherer},
  journal={Human Genetics},
  year={1992},
  volume={90},
  pages={350-355}
}
A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the high mobility group (HMG) box, a protein domain known to confer DNA-binding specificity on the SRY protein. This point mutation results in the substitution, at amino acid position 109, of a serine… CONTINUE READING