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A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
J R Bilbao1, L Loridan, L Castaño
1Department of Pediatric Endocrinology, Hospital de Cruces, Basque Country, Spain.
Abstract:
The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an incomplete DNA-binding domain. The mutation is also present in the father of the two cases, but a portion of wild-type SRY also remains. Our data suggest that the father suffered a postzygotic mutation early in development, but that he retained a remnant of functional SRY protein that accounts for his normal development.
Insights
A familial nonsense mutation in the SRY gene causes complete gonadal dysgenesis in XY females. The father, carrying the mutation mosaicly, retained normal development due to residual functional SRY protein.
Area of Science:
- Genetics
- Developmental Biology
- Endocrinology
Background:
- The SRY gene on the Y chromosome is crucial for male sexual development and testis determination.
- Mutations in SRY can lead to disorders of sex development (DSDs).