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Xp duplications and sex reversal
Summary
Duplications in the X chromosome
Area of Science:
- Genetics
- Developmental Biology
- Endocrinology
Background:
- Male to female sex reversal is linked to X chromosome duplications.
- The dosage sensitive sex reversal (DSS) locus on Xp is implicated in sex determination.
- DSS's role in ovarian development and gonad formation is suggested.
Purpose of the Study:
- To investigate the role of the DSS locus in sex reversal.
- To identify candidate genes within the DSS critical region.
- To understand the genetic basis of male to female sex reversal.
Main Methods:
- Analysis of patients with Xp duplications.
- Localization of the DSS locus to Xp21.
- Identification of expressed sequences within the DSS critical region.
Main Results:
- Duplication of the DSS locus causes male to female sex reversal.
- DSS is localized to a 160 kb region overlapping the adrenal hypoplasia congenita locus.
- DAM genes and DAX-1 were identified as candidate DSS genes.
Conclusions:
- The DSS locus plays a critical role in mammalian sex determination.
- DAX-1, a nuclear receptor, is a strong candidate for DSS.
- Further research is needed to fully elucidate the function of DSS and its associated genes.