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Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old.
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The data show that during mouse development Pof1b expression is activated in the external layers of the epidermis just prior to formation of the epidermal permeability barrier.
POF1B was restricted to granular layers in human healthy epidermis, whereas it largely increased in hyperproliferative human skin diseases, thus demonstrating the localization of POF1B also in desmosomes of multistratified epithelia.
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity
Our findings could not demonstrate any involvement of POF1B in premature ovarian failure
Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called 'POF1' and 'POF2' have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined.
, premature ovarian failure protein 1B