Abstract:
:R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Parma P,Radi O,Vidal V,Chaboissier MC,Dellambra E,Valentini S,Guerra L,Schedl A,Camerino Gdoi
10.1038/ng1907subject
Has Abstractpub_date
2006-11-01 00:00:00pages
1304-9issue
11eissn
1061-4036issn
1546-1718pii
ng1907journal_volume
38pub_type
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