TY - JOUR
T1 - Mutations of follicle stimulating hormone-β and its receptor in human and mouse
T2 - Genotype/phenotype
AU - Layman, Lawrence C.
AU - McDonough, Paul G.
N1 - Funding Information:
This work was supported by the NICHD PHS-HD33004 to L.C.L.
PY - 2000/3/30
Y1 - 2000/3/30
N2 - 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. FSHβ knock-out mice and transgenic mice, serve as models for FSH deficiency and excess, respectively. In addition, mutations of both FSHβ 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. Copyright (C) 2000 Elsevier Science Ireland Ltd.
AB - 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. FSHβ knock-out mice and transgenic mice, serve as models for FSH deficiency and excess, respectively. In addition, mutations of both FSHβ 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. Copyright (C) 2000 Elsevier Science Ireland Ltd.
KW - FSH receptor
KW - FSHβ gene
KW - FSHβ knock-out mouse
KW - FSHβ transgenic mouse
KW - Follicle stimulating hormone (FSH)
KW - Isolated FSH deficiency
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U2 - 10.1016/S0303-7207(99)00217-8
DO - 10.1016/S0303-7207(99)00217-8
M3 - Article
C2 - 10773385
AN - SCOPUS:0034732237
SN - 0303-7207
VL - 161
SP - 9
EP - 17
JO - Molecular and Cellular Endocrinology
JF - Molecular and Cellular Endocrinology
IS - 1-2
ER -