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人类和小鼠中促卵泡激素β及其受体的突变:基因型/表型

Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.

作者信息

Layman L C, McDonough P G

机构信息

Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, The Medical College of Georgia, Augusta 30912-3360, USA.

出版信息

Mol Cell Endocrinol. 2000 Mar 30;161(1-2):9-17. doi: 10.1016/s0303-7207(99)00217-8.

DOI:10.1016/s0303-7207(99)00217-8
PMID:10773385
Abstract

The pituitary gonadotropin follicle stimulating hormone (FSH) interacts with its membrane-bound receptor, to produce biologic effects. Traditional functions of FSH include, follicular development and estradiol production in females and the regulation of Sertoli cell action and spermatogenesis in males. FSHbeta knock-out mice and transgenic mice, serve as models for FSH deficiency and excess, respectively. In addition, mutations of both FSHbeta and FSHR genes have been characterized in humans, although phenotypic effects of the ligand appear to be more profound than those of its receptor. FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible. FSH may also be necessary for normal androgen synthesis in males and females.

摘要

垂体促性腺激素卵泡刺激素(FSH)与其膜结合受体相互作用,以产生生物学效应。FSH的传统功能包括,女性的卵泡发育和雌二醇生成,以及男性支持细胞功能的调节和精子发生。FSHβ基因敲除小鼠和转基因小鼠,分别作为FSH缺乏和过量的模型。此外,人类中已鉴定出FSHβ和FSHR基因的突变,尽管配体的表型效应似乎比其受体的更为显著。FSH对女性正常青春期和生育至关重要,尤其是对窦状卵泡阶段之后的卵巢卵泡发育。在男性中,FSH对正常精子发生是必需的,当FSH功能完全缺失时,会导致不育。男性存在部分FSH缺乏时,精子发生会受到影响,但仍有可能生育。FSH对男性和女性的正常雄激素合成可能也是必需的。

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