Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci

Mol Cell Endocrinol. 2010 Nov 25;329(1-2):4-16. doi: 10.1016/j.mce.2010.04.024. Epub 2010 May 19.


The follicle stimulating hormone (FSH), luteinizing hormone (LH) and chorionic gonadotropin (HCG) play a critical role in human reproduction. Despite the common evolutionary ancestry and functional relatedness of the gonadotropin hormone beta (GtHB) genes, the single-copy FSHB (at 11p13) and the multi-copy LHB/CGB genes (at 19q13.32) exhibit locus-specific differences regarding their genomic context, evolution, genetic variation and expressional profile. FSHB represents a conservative vertebrate gene with a unique function and it is located in a structurally stable gene-poor region. In contrast, the primate-specific LHB/CGB gene cluster is located in a gene-rich genomic context and demonstrates an example of evolutionary young and unstable genomic region. The gene cluster is shaped by a constant balance between selection that acts on specific functions of the loci and frequent gene conversion events among duplicons. As the transcription of the GtHB genes is rate-limiting in the assembly of respective hormones, the genomic and genetic context of the FSHB and the LHB/CGB genes largely affects the profile of the hormone production.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chorionic Gonadotropin, beta Subunit, Human / genetics
  • Follicle Stimulating Hormone, beta Subunit / genetics
  • Genetic Loci*
  • Genome, Human
  • Gonadotropins / genetics*
  • Humans
  • Luteinizing Hormone, beta Subunit / genetics
  • Protein Subunits


  • Chorionic Gonadotropin, beta Subunit, Human
  • Follicle Stimulating Hormone, beta Subunit
  • Gonadotropins
  • Luteinizing Hormone, beta Subunit
  • Protein Subunits