A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence


Yang Q., Mumusoglu S., Qin Y., Sun Y., Hsueh A. J.

FASEB JOURNAL, cilt.35, sa.8, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 35 Sayı: 8
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1096/fj.202100756r
  • Dergi Adı: FASEB JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Applied Science & Technology Source, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: mitochondrial functions, ovarian senescence, premature ovarian insufficiency, STIMULATING-HORMONE RECEPTOR, GROWTH-DIFFERENTIATION FACTOR-9, HELIX TRANSCRIPTION FACTOR, INCREASED OVULATION RATE, GENOME-WIDE ASSOCIATION, FRAGILE-X PREMUTATION, SYNAPTONEMAL COMPLEX, MICE LACKING, FOLLICLE DEVELOPMENT, ANDROGEN RECEPTOR
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Ovarian infertility and subfertility presenting with premature ovarian insufficiency (POI) and diminished ovarian reserve are major issues facing the developed world due to the trend of delaying childbirth. Ovarian senescence and POI represent a continuum of physiological/pathophysiological changes in ovarian follicle functions. Based on advances in whole exome sequencing, evaluation of gene copy variants, together with family-based and genome-wide association studies, we discussed genes responsible for POI and ovarian senescence. We used a gene-centric approach to sort out literature deposited in the Ovarian Kaleidoscope database () by sub-categorizing candidate genes as ligand-receptor signaling, meiosis and DNA repair, transcriptional factors, RNA metabolism, enzymes, and others. We discussed individual gene mutations found in POI patients and verification of gene functions in gene-deleted model organisms. Decreased expression of some of the POI genes could be responsible for ovarian senescence, especially those essential for DNA repair, meiosis and mitochondrial functions. We propose to set up a candidate gene panel for targeted sequencing in POI patients together with studies on mitochondria-associated genes in middle-aged subfertile patients.