title: Human FSH beta subunit gene is highly conserved.
abstract: FSH is a pituitary gonadotropin that along with LH plays a key role in the regulation of gonadal function. The gonadotropic hormones are composed of two subunits, the common alpha subunit and the hormone-specific beta subunit, which determines the binding to specific receptors and induction of biological response. Unlike the LHbeta gene, shown in earlier studies to harbour several amino acid-altering polymorphisms and mutations, information about the eventual sequence variation of the human FSHbeta subunit is not available. In this study, we made sequence analysis and comparison of polymorphisms found in FSHbeta in two Caucasian populations, the Finns and the Danes. It was found that FSHbeta subunit is highly conserved in these populations. Compared with the published sequences, only three silent polymorphisms were detected in the coding regions of the gene, and the promoter sequence was completely identical with the reported sequence. Two of the polymorphisms found were novel, one in the Finnish and one in the Danish population. The results of the sequence analysis show that the human FSHbeta gene is highly conserved and amino acid changing mutations are apparently extremely rare, at least in the samples collected randomly from control populations. This may be due to the crucial role of normal FSH function in the regulation of fertility.
authors.affiliation: Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu, Turku, Finland.
authors.forename: Tarja
authors.initials: T
authors.lastname: Lamminen
authors.forename: Päivi
authors.initials: P
authors.lastname: Jokinen
authors.forename: Min
authors.initials: M
authors.lastname: Jiang
authors.forename: Pirjo
authors.initials: P
authors.lastname: Pakarinen
authors.forename: Henrik
authors.initials: H
authors.lastname: Simonsen
authors.forename: Ilpo
authors.initials: I
authors.lastname: Huhtaniemi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit