Mol. Hum. Reprod. Advance Access originally published online on August 12, 2005
Molecular Human Reproduction 2005 11(8):601-605; doi:10.1093/molehr/gah198
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Human FSHß subunit gene is highly conserved
1Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu, Turku, Finland, 2Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark and 3Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, London, UK
4 To whom correspondence should be addressed at: Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 ONN, UK. E-mail: ilpo.huhtaniemi{at}imperial.ac.uk
5 Present address: Department of Paediatrics, Glostrup University Hospital, Glostrup, Denmark
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 
subunit and the hormone-specific ß subunit, which determines the binding to specific receptors and induction of biological response. Unlike the LHß gene, shown in earlier studies to harbour several amino acid-altering polymorphisms and mutations, information about the eventual sequence variation of the human FSHß subunit is not available. In this study, we made sequence analysis and comparison of polymorphisms found in FSHß in two Caucasian populations, the Finns and the Danes. It was found that FSHß 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 FSHß 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.
Key words: FSHß/gene/polymorphism/population study
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