Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

@article{SchmittNey1995TwoNS,
  title={Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.},
  author={M Schmitt-Ney and Hannelore Thiele and P. Kaltwasser and Barbara Bardoni and Mariangela Cisternino and Gerd Scherer},
  journal={American journal of human genetics},
  year={1995},
  volume={56 4},
  pages={862-9}
}
Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serine at position 91 to glycine, was found in a sporadic case. The second mutation, leading to replacement of a highly conserved proline at position 125 with leucine, is shared by three members of the… CONTINUE READING

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