Lamminen Tarja, Jokinen Päivi, Jiang Min, Pakarinen Pirjo, Simonsen Henrik, Huhtaniemi Ilpo
Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu, Turku, Finland.
Mol Hum Reprod. 2005 Aug;11(8):601-5. doi: 10.1093/molehr/gah198. Epub 2005 Aug 12.
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.
促卵泡激素（FSH）是一种垂体促性腺激素，它与促黄体生成素（LH）一起在性腺功能调节中起关键作用。促性腺激素由两个亚基组成，即共同的α亚基和激素特异性β亚基，后者决定了与特定受体的结合以及生物反应的诱导。与早期研究中显示存在多种氨基酸改变多态性和突变的LHβ基因不同，目前尚无关于人类FSHβ亚基最终序列变异的信息。在本研究中，我们对芬兰人和丹麦人这两个白种人群体中FSHβ基因的多态性进行了序列分析和比较。结果发现，FSHβ亚基在这些人群中高度保守。与已发表的序列相比，在该基因的编码区仅检测到三个沉默多态性，且启动子序列与报道的序列完全相同。所发现的两个多态性是新的，一个在芬兰人群体中，另一个在丹麦人群体中。序列分析结果表明，人类FSHβ基因高度保守，至少在从对照人群中随机收集的样本中，氨基酸改变的突变显然极为罕见。这可能是由于正常FSH功能在生育调节中起关键作用。
