卵泡刺激素受体基因点突变与生殖功能的研究进展

聿婷 薛, 芳 刘

摘要


卵泡刺激素受体（FSHR）主要特异性表达于卵巢颗粒细胞以及睾丸支持细胞。作为 G 蛋白偶联受体蛋白，可与FSH 形成特异结合的复合物，激活胞内信号传导最终决定生殖相关细胞增殖、分化。FSH 基因的点突变绝大多数仅为单次报道，可导致生殖系统疾病。男女性生殖系统的正常发育及功能均依赖于完整的 FSHR 介导，FSHR 突变对两性生殖表型的影响存在着差异。

关键词


卵泡刺激素受体；突变；生殖功能

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参考


颜元良,龚志成.卵泡刺激素受体基因多态性对女性卵巢功能影响的研究进展[J].中国临床药理学与治疗学,2013(18):944-949.

蔡婕.卵泡刺激素受体在脂肪组织和卵巢颗粒细胞的表达及其功能[D].杭州:浙江大学,2008.

Desai S S, Roy B S, Mahale S D. Mutations and polymorphisms in FSH receptor: functional implications in human reproduction[J]. Reproduction (Cambridge, England),2013,146(6):235-248.

Janovick J A, Maya-Núñez G, Ulloa-Aguirre A, et al. Increased plasma membrane expression of human follicle-stimulating hormone receptor by a small molecule thienopyr(im)idine[J]. Molecular and Cellular Endocrinology,2009,298(2):84-88.

付令元,章三娇,张兆奉,等.卵泡刺激素受体基因的点突变和 单核苷酸多态性[J].Research Progress on Mutations and Single Nucleotide Polymorphisms of Follicle Stimulating Hormone Receptor Gene,2012,32(5):328-334+344.

França M M, Lerario A M, Funari M F A, et al. A novel homozygous missense fshr variant associated with hypergonadotropic hypogonadism in two siblings from a brazilian family[J]. Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and

Desai S S, Achrekar S K, Sahasrabuddhe K A, et al. Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor[J]. The Journal of Clinical Endocrinology and Metabolism, 2015,100(4):638-645.

Torrealday S, Kodaman P, Pal L. Premature ovarian insufficiency—An update on recent advances in understanding and management[J]. F1000Research,2017(6):2069.

Rannikko A, Pakarinen P, Manna P R, et al. Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation[J]. Molecular Human Reproduction,2002,8(4):311-317.

A D L, G C, S E, et al. Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome[J]. Human mutation, 2008,29(1):91-98.




DOI: https://doi.org/10.12346/pmr.v4i1.5430

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