PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans


GÜRAN T., YEŞİL G. , Turan S., Atay Z., BOZKURTLAR E., Aghayev A., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.180, ss.291-309, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 180 Konu: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1530/eje-19-0067
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Sayfa Sayısı: ss.291-309

Özet

Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B '' gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown.