Mutations in a gene called RSPO1 result in female to male sex reversal, according to a study to be published in the November 2006 issue of Nature Genetics.
Giovanna Camerino and colleagues studied an Italian family in which four brothers were identified as having two X chromosomes -- the female complement of sex chromosomes. Such female to male sex reversal is extremely rare, and is usually accompanied by translocation of the male sex-determining gene SRY from the Y chromosome to one of the other chromosomes. In this family, however, the SRY gene is not present, suggesting another genetic cause of sex reversal. The authors identified mutations in RSPO1 -- which encodes R-spondin1, a member of a small family of proteins that are secreted by cells -- in all of the brothers. This study represents the first time that the mutation of a single gene has been shown to cause complete female to male sex reversal in the absence of SRY, and shows that RSPO1 is also an essential ovary-determining gene.
Giovanna Camerino (University of Pavia, Italy)
Abstract available online.
(C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
Bookmark and Share this page (what is this?)
Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.
Use the links below to share this article on the social bookmarking site of your choice.
Read more about social bookmarking at Wikipedia - Social Bookmarking