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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 determination and fragile-X premutation syndrome investigation. All exons, intron-exon boundaries and untranslated regions of the  RSPO2  gene were identified by sequencing, and the results were statistically analyzed.    Results  We found that RSPO2 can be regulated by NOBOX via the presence of NOBOX Binding Element in its promoter. Among 9 identified variants in POI women, 4 of them were equally homozygous, 4 have never been described (c.-359C > G, c.-190G > A, c.-170 + 13C > T and c.-169-8 T > A), only one c.557 T > C was predicted to alter a single amino acid in the RSPO2 protein (p.Leu186Pro).    Conclusions    RSPO2  is a novel target gene of the NOBOX key transcription factor, confirming its important role during the follicular growth in ovary. However,  RSPO2  mutations are rare or uncommon in women with POI.

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