title: Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.
abstract: 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.
authors.affiliation: Institute of Molecular and Cell Biology, University of Tartu, Riia St. 23, 51010 Tartu, Estonia.
authors.forename: Liina
authors.initials: L
authors.lastname: Nagirnaja
authors.forename: Kristiina
authors.initials: K
authors.lastname: Rull
authors.forename: Liis
authors.initials: L
authors.lastname: Uusküla
authors.forename: Pille
authors.initials: P
authors.lastname: Hallast
authors.forename: Marina
authors.initials: M
authors.lastname: Grigorova
authors.forename: Maris
authors.initials: M
authors.lastname: Laan
mesh_terms: D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000235:genetics; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics; D056426:Genetic Loci; D015894:Genome, Human; D006062:Gonadotropins / Q000235:genetics*; D006801:Humans; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics; D021122:Protein Subunits
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D037201:Follicle Stimulating Hormone, beta Subunit; D006062:Gonadotropins; D037101:Luteinizing Hormone, beta Subunit; D021122:Protein Subunits