Tuesday, October 17, 2006
New Sex Determination Gene Identified
University of Pavia (Italy), 16 October: Giovanna Camerino and colleagues studied an Italian family in which 4 brothers were identified as having 2 X chromosomes- the female complement of sex chromosomes. Such female to male sex reversal is extremely rare, and is usually accompanied by translocation of 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.
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.
# posted by mediabhartiwebsolutions @ 3:17 AM 
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