Article
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
The Journal of clinical endocrinology and metabolism - 1 Jul 2002
Jordan Brian K, Jain Manas, Natarajan Sathima, Frasier S Douglas, Vilain Eric
Abstract excerpt
In humans, mutations in the testis-determining gene SRY result in XY sex reversal with pure gonadal dysgenesis (PGD). However, only about 10-15% of the cases of PGD can be explained by mutations within the SRY open reading frame, suggesting the existence of other sex-determining genes. Although SRY is known to bind and bend DNA, its target and mode of action remain elusive. Here, we describe a novel mutation in...
Topics
- Amino Acid Substitution
- Base Sequence
- DNA-Binding Proteins
- Fathers
- Female
- Genes, sry
- Gonadal Dysgenesis, 46,XY
- HMG-Box Domains
- Humans
- Male
- Mutation
- Nuclear Proteins
- Phenylalanine
- Polymerase Chain Reaction