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The genetic make‐up of ovarian development and function: the focus on the transcription factor FOXL2
Author(s) -
Elzaiat M.,
Todeschini A.L.,
Caburet S.,
Veitia R.A.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12862
Subject(s) - testis determining factor , wnt4 , biology , transcription factor , infertility , gene , genetics , cancer research , y chromosome , wnt signaling pathway , pregnancy
In a 46 XY individual, the presence of the Y chromosome harboring the testis‐determining factor ( SRY ) triggers testis determination and differentiation. In a 46 XX individual, the absence of SRY and the activation of genes associated with the female pathway lead to ovarian development. The latter process has long been considered as a default pathway. However, recent studies have cast doubts on this dogma. Here, after a brief overview of the main steps of ovarian development, we focus on three genes WNT4 , RSPO1 and FOXL2 that are essential for ovarian determination, differentiation and/or maintenance. Special attention is paid to FOXL2 whose mutations are responsible for the blepharophimosis syndrome, often associated with female infertility, and for cancer. We highlight the cooperation of WNT4 , RSPO1 and FOXL2 within a regulatory network and the need for further research to better understand their role in defining and maintaining ovarian identity.

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