FOXL2: a central transcription factor of the ovary.
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.
CNRS UMR 7592, Institut Jacques Monod, 15 Rue Hélène Brion, 75013 Paris, France Université Paris Diderot, Paris VII, Paris, France.
Adrien
A
Georges
Aurelie
A
Auguste
Laurianne
L
Bessière
Anne
A
Vanet
Anne-Laure
AL
Todeschini
Reiner A
RA
Veitia
D000818:Animals; D002454:Cell Differentiation; D049109:Cell Proliferation; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000378:metabolism; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D005786:Gene Expression Regulation; D006107:Granulosa Cells / Q000166:cytology / Q000378:metabolism; D006801:Humans; D006080:Ovarian Follicle / Q000502:physiology; D010053:Ovary / Q000378:metabolism* / Q000502:physiology; D019849:Sex Determination Processes / Q000502:physiology
D051858:Forkhead Transcription Factors
FOXL2; cancer; oestrogen receptors; ovarian function; ovary