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Testis-determining factor and Y-linked sex reversal.
J R Hawkins1, P Koopman, P Berta
1Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, UK.
Current Opinion in Genetics & Development
|June 1, 1991
Summary
The SRY gene, located on the Y chromosome, is a key factor in male sex determination. Mutations in this gene are linked to conditions where individuals with XY chromosomes develop as females.
Area of Science:
- Genetics
- Developmental Biology
- Human Molecular Biology
Background:
- The Y chromosome plays a crucial role in male sex determination.
- The search for the testis-determining factor (TDF) has been a long-standing challenge in genetics.
Purpose of the Study:
- To investigate the role of the SRY gene in human sex determination.
- To evaluate SRY as a potential candidate for the testis-determining factor.
Main Methods:
- Isolation and characterization of the SRY gene from the sex-determining region of the human Y chromosome.
- Analysis of SRY gene in individuals with XY karyotype and female phenotype.
Main Results:
- The SRY gene was successfully isolated from the human Y chromosome.
- The SRY gene meets key criteria for the testis-determining factor.
- Mutations in the SRY gene were identified in XY females.
Conclusions:
- The SRY gene is strongly implicated as the primary gene responsible for testis determination in humans.
- Understanding SRY's function is critical for diagnosing and understanding sex development disorders.