Functional characterization of two naturally occurring mutations V²²¹G and T⁴⁴⁹N in the follicle stimulating hormone receptor

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• 作者：Antara A. Banerjee^a ; Swati K. Achrekar^b ; Shaini Joseph^b ; Bhakti R. Pathak^a ; Smita D. Mahale^a ; ^b ; ^{smitamahale@hotmail.com}
• 关键词：Extracellular domain ; FSH receptor ; Naturally occurring mutations ; Ovarian hyperstimulation syndrome ; Primary amenorrhea
• 刊名：Molecular and Cellular Endocrinology
• 出版年：2017
• 出版时间：15 January 2017
• 年：2017
• 卷：440
• 期：Complete
• 页码：69-79
• 全文大小：2303 K
• 卷排序：440

文摘

Ligand binding and signaling ability tested in vitro for FSHR mutants V221G and T449N. Primary amenorrhea seems to be due to reduced FSHR activity in the V221G mutation. FSHR specific residues around V221 interact with FSH and are crucial for signaling. sOHSS reported by our group in a pregnant woman is due to T449N mutation in FSHR gene.