Bmp15 mutations and ovarian function

Mol Cell Endocrinol. 2002 May 31;191(1):15-8. doi: 10.1016/s0303-7207(02)00047-3.

Abstract

BMP15, also known as growth and differentiation factor 9B (GDF9B), is a member of the transforming growth factor beta superfamily (TGFbeta) which in humans, rodents and sheep is expressed exclusively in the oocyte. BMP15 is closely related to GDF9, another oocyte-specific member of this superfamily which has been shown to be essential for early ovarian folliculogenesis. Inactivation of the BMP15 gene in mice has shown only minor effects on fertility. However, Inverdale and Hanna lines of sheep carry naturally occurring mutations in BMP15 which highlight differences in the action of this gene between mice and other mammals. Sheep which are heterozygous show an increase in ovulation rate whereas homozygotes are infertile. The granulosa cell receptor which mediates the BMP15 response has not yet been identified, but the discovery that a point mutation in the BMP1B receptor in Booroola sheep is responsible for increased ovulation rate highlights the importance of the TGFbeta signalling molecules in early folliculogenesis.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Morphogenetic Protein 15
  • Chromosome Mapping
  • Female
  • Growth Differentiation Factor 9
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Mice
  • Mutation*
  • Oocytes / physiology
  • Ovary / physiology*
  • Ovulation*
  • Phenotype
  • Sheep
  • Transforming Growth Factor beta / metabolism
  • X Chromosome / genetics

Substances

  • BMP15 protein, human
  • Bmp15 protein, mouse
  • Bone Morphogenetic Protein 15
  • GDF9 protein, human
  • Gdf9 protein, mouse
  • Growth Differentiation Factor 9
  • Intercellular Signaling Peptides and Proteins
  • Transforming Growth Factor beta