Article
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
Nature - 8 Dec 1994
Foster J W, Dominguez-Steglich M A, Guioli S, Kwok C, Weller P A, Stevanović M, Weissenbach J, Mansour S, Young I D, Goodfellow P N
Abstract excerpt
Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia,...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 2
- DNA Primers
- DNA, Single-Stranded
- DNA-Binding Proteins
- Disorders of Sex Development
- Female
- High Mobility Group Proteins
- Humans
- Hybrid Cells
- Male
- Mice
- Molecular Sequence Data
- Mutation