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Mol. Hum. Reprod. Advance Access published online on August 12, 2005

Molecular Human Reproduction, doi:10.1093/molehr/gah198
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received June 2, 2005
Accepted June 5, 2005

Articles

Human FSH{beta} subunit gene is highly conserved

Tarja Lamminen 1, Päivi Jokinen 1, Min Jiang 1, Pirjo Pakarinen 1, Henrik Simonsen 2, and Ilpo Huhtaniemi 3*

1 Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu, Turku, Finland
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

* To whom correspondence should be addressed.
Ilpo Huhtaniemi, E-mail: ilpo.huhtaniemi{at}imperial.ac.uk


   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 LH {beta} gene, shown in earlier studies to harbour several amino acid-altering polymorphisms and mutations, information about the eventual sequence variation of the human FSH {beta} subunit is not available. In this study, we made sequence analysis and comparison of polymorphisms found in FSH {beta} in two Caucasian populations, the Finns and the Danes. It was found that FSH {beta} 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 {beta} 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.

Keywords: FSH{beta}/gene/polymorphism/population study.
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M. Grigorova, M. Punab, K. Ausmees, and M. Laan
FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men
Hum. Reprod., September 1, 2008; 23(9): 2160 - 2166.
[Abstract] [Full Text] [PDF]



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