FOXL2: a central transcription factor of the ovary

    1. Reiner A Veitia1,2
    1. 1CNRS UMR 7592, Institut Jacques Monod, 15 Rue Hélène Brion, 75013 Paris, France
      2Université Paris Diderot, Paris VII, Paris, France
    1. Correspondence should be addressed to R A Veitia; Email: veitia.reiner{at}


    Forkhead box L2 (FOXL2) is a gene encoding a forkhead transcription factor preferentially expressed in the ovary, the eyelids and the pituitary gland. Its germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome, which includes eyelid and mild craniofacial defects associated with primary ovarian insufficiency. Recent studies have shown the involvement of FOXL2 in virtually all stages of ovarian development and function, as well as in granulosa cell (GC)-related pathologies. A central role of FOXL2 is the lifetime maintenance of GC identity through the repression of testis-specific genes. Recently, a highly recurrent somatic FOXL2 mutation leading to the p.C134W subtitution has been linked to the development of GC tumours in the adult, which account for up to 5% of ovarian malignancies. In this review, we summarise data on FOXL2 modulators, targets, partners and post-translational modifications. Despite the progresses made thus far, a better understanding of the impact of FOXL2 mutations and of the molecular aspects of its function is required to rationalise its implication in various pathophysiological processes.

    • Revision received 26 August 2013
    • Accepted 18 September 2013
    • Made available online as an Accepted Preprint 18 September 2013
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