open access

Vol 47, No 5 (2009)
Original paper
Submitted: 2011-12-19
Published online: 2010-01-14
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The transcription factor FOXL2 in ovarian function and dysfunction.

Elfride De Baere, Marc Fellous, Reiner A Veitia
DOI: 10.2478/v10042-009-0062-7
·
Folia Histochem Cytobiol 2009;47(5):43-49.

open access

Vol 47, No 5 (2009)
ORIGINAL PAPERS
Submitted: 2011-12-19
Published online: 2010-01-14

Abstract

The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF). BPES is basically an autosomal dominant disease, due to mutations in the FOXL2 gene, which encodes a forkhead transcription factor. More than one hundred mutations of FOXL2 have been described to date. In agreement with the BPES phenotype, FOXL2 is expressed (though not exclusively) in the developing eyelids and in fetal and adult ovaries. Two mouse knock-out models have been produced. They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted to lead to BPES and POF, while hypomorphic mutations might lead to BPES without ovarian dysfunction. However, exceptions to the genotype-phenotype correlation have been described. To better understand the pathogenic effect of these mutations it is crucial to study the normal regulation of FOXL2 and its targets. We briefly address these aspects in this review and hope that basic research around FOXL2 will eventually lead to uncover new therapeutic avenues.

Abstract

The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF). BPES is basically an autosomal dominant disease, due to mutations in the FOXL2 gene, which encodes a forkhead transcription factor. More than one hundred mutations of FOXL2 have been described to date. In agreement with the BPES phenotype, FOXL2 is expressed (though not exclusively) in the developing eyelids and in fetal and adult ovaries. Two mouse knock-out models have been produced. They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted to lead to BPES and POF, while hypomorphic mutations might lead to BPES without ovarian dysfunction. However, exceptions to the genotype-phenotype correlation have been described. To better understand the pathogenic effect of these mutations it is crucial to study the normal regulation of FOXL2 and its targets. We briefly address these aspects in this review and hope that basic research around FOXL2 will eventually lead to uncover new therapeutic avenues.
Get Citation
About this article
Title

The transcription factor FOXL2 in ovarian function and dysfunction.

Journal

Folia Histochemica et Cytobiologica

Issue

Vol 47, No 5 (2009)

Article type

Original paper

Pages

43-49

Published online

2010-01-14

DOI

10.2478/v10042-009-0062-7

Bibliographic record

Folia Histochem Cytobiol 2009;47(5):43-49.

Authors

Elfride De Baere
Marc Fellous
Reiner A Veitia

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