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