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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

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, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.[1]

References

  1. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kowk, G., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N. Nature (1994) [Pubmed]
 
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