Article
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.
Acta paediatrica Japonica : Overseas edition - 1 Aug 1996
Foster J W
Abstract excerpt
The human testis determining factor (SRY) has been cloned from the Y chromosome. This gene is a dominant inducer of male differentiation. Mutations in the SRY gene result in an XY individual developing as a sex reversed phenotypic female. Sex reversal in humans can also be caused by mutations loc...
Topics
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- DNA-Binding Proteins
- Disorders of Sex Development
- Female
- Gene Deletion
- High Mobility Group Proteins
- Humans
- Male
- Mutation
- Nuclear Proteins
- Osteochondrodysplasias
- SOX9 Transcription Factor
- Sex Differentiation
- Sex-Determining Region Y Protein
- Transcription Factors