Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
Follicle-stimulating hormone (FSH), a dimeric glycoprotein synthesized in the anterior pituitary gland, is important for the production of sex steroids and gametes. FSH-beta (FSH beta) and FSH receptor (FSHR) knockout mice display impaired ovarian follicular development and infertility in females and small testes, oligospermia, and fertility in males. Humans with FSH beta gene mutations tend to have a more severe phenotype than those with FSHR gene mutations, although infertility and varying degrees of impaired sex steroid production occur in both types of mutations. Data from human and mouse mutations in the FSH beta and FSHR genes suggest that FSH is necessary for normal pubertal development and fertility in males and females.
Layman
L C
LC
Department of Obstetrics & Gynecology, Section of Reproductive Endocrinology, Infertility, and Genetics, Developmental Biology Program, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, Georgia, USA.
D000818:Animals; D005260:Female; D005640:Follicle Stimulating Hormone / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D037201:Follicle Stimulating Hormone, beta Subunit; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007246:Infertility / Q000235:genetics; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D011627:Puberty / Q000502:physiology; D011962:Receptors, FSH / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
D037201:Follicle Stimulating Hormone, beta Subunit; D011962:Receptors, FSH; D005640:Follicle Stimulating Hormone