| Literature DB >> 11175783 |
L Crisponi1, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, L Zelante, R Nagaraja, S Porcu, M S Ristaldi, R Marzella, M Rocchi, M Nicolino, A Lienhardt-Roussie, A Nivelon, A Verloes, D Schlessinger, P Gasparini, D Bonneau, A Cao, G Pilia.
Abstract
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.Entities:
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Year: 2001 PMID： 11175783 DOI： 10.1038/84781
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330