Skip to main content
Article thumbnail
Location of Repository

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.

By M. Elzaiat, A.-L. Todeschini, S Caburet and R A Veitia


International audienceIn 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

Topics: FOXL2, RSPO1, WNT4, ovary, premature ovarian failure, premature ovarian insufficiency, [ SDV.GEN ] Life Sciences [q-bio]/Genetics
Publisher: Wiley
Year: 2017
DOI identifier: 10.1111/cge.12862
OAI identifier: oai:HAL:hal-01498857v1
Provided by: Hal-Diderot
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • https://hal.archives-ouvertes.... (external link)
  • https://hal.archives-ouvertes.... (external link)
  • https://hal.archives-ouvertes.... (external link)
  • Suggested articles

    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.