Candidate genes for premature ovarian failure

Curr Med Chem. 2007;14(3):353-7. doi: 10.2174/092986707779941087.


Premature ovarian failure (POF) is defined as the cessation of ovarian function under the age of 40 years and is characterized by amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations. POF affects 1% of all women and occurs in approximately 0.1% before the age of 30 years. To date, mutations associated with POF have been identified in a small number of genes, including those encoding inhibin alpha (INHA), the FSH receptor and the LH/chorio gonadotrophin receptor. Germ cell specific genes such as Gdf9, Bmp15, and Rfpl4 may also play important roles in human oogenesis. Transcription factors that regulate oocyte gene expression in animal models and include Nobox, Taf4b, Figla, Lhx8, Sohlh1 and Sohlh2 are likely to be key mediators of fertility in humans. In this review, after summarizing the general background on human POF, we focus on insights gained from the animal models with regards to mammalian folliculogenesis. Studies in animal models provide new candidate genes for ovarian failure in humans.

Publication types

  • Review

MeSH terms

  • Adult
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Homeodomain Proteins / genetics
  • Humans
  • Inhibins / genetics
  • Microfilament Proteins
  • Nuclear Proteins / genetics
  • Nuclear Receptor Subfamily 6, Group A, Member 1
  • Primary Ovarian Insufficiency / genetics*
  • Proteins / genetics
  • Receptors, Cytoplasmic and Nuclear / genetics
  • TATA-Binding Protein Associated Factors / genetics
  • Transcription Factor TFIID / genetics
  • Transcription Factors / genetics
  • Ubiquitin-Protein Ligases / genetics
  • X Chromosome / genetics


  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • Dach2 protein, mouse
  • Figla protein, mouse
  • Homeodomain Proteins
  • Microfilament Proteins
  • NR6A1 protein, human
  • Nr6a1 protein, mouse
  • Nuclear Proteins
  • Nuclear Receptor Subfamily 6, Group A, Member 1
  • Obox1 protein, mouse
  • Og2x protein, mouse
  • POF1B protein, human
  • Proteins
  • Receptors, Cytoplasmic and Nuclear
  • Sohlh1 protein, mouse
  • TATA-Binding Protein Associated Factors
  • Taf4b protein, mouse
  • Transcription Factor TFIID
  • Transcription Factors
  • inhibin A
  • Inhibins
  • Rfpl4 protein, mouse
  • Ubiquitin-Protein Ligases