R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.

ABSTRACT:

Background

R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI.

Methods

We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor. Then, we evaluated 100 infertile women after obtaining a detailed history of the disease and follicle-stimulating hormone measurements, besides karyotype dete

SUBMITTER: Bouilly J 

PROVIDER: S-EPMC5526297 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature