Point mutations in the SRY gene

The human SRY gene has a single exon and encodes
a 204-amino-acid protein from a 1.1 kb
transcript. The middle section of the SRY protein
consists of 79 highly conserved amino acids
with DNA-bending and DNA-binding capability,
the HMG box (high mobility group protein).
Complete or partial gonadal dysgenesis results
from point mutations and deletions in the SRY
gene, in particular the HMG box. (Figure
adapted fromWolf et al., 1992; for an update of
mutations see McElreavey and Fellous, 1999).
Sex reversal also results from mutations in the
SOX9 gene on chromosome 17 at q24 in campomelic
dysplasia.