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

Güran T., Yesil G., Turan S., Atay Z., Bozkurtlar E., Aghayev A., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.180, sa.5, ss.291-309, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 180 Sayı: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1530/eje-19-0067
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.291-309
  • Marmara Üniversitesi Adresli: Evet

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.