Detection of mutations in glycoprotein hormone receptors.
The luteinizing, follicle-stimulating, and thyroid-stimulating hormone receptors belong to the huge family of G-protein-coupled receptors. Identification of either activating or inactivating mutations of these receptors has led to a fundamental improvement in our understanding of glycoprotein hormone/receptor interaction. Furthermore, clinical phenotypes such as precocious puberty, follicle-stimulating hormone (FSH) insensitivity syndrome, and congenital hypthyroidism are now being explained by mutated glycoprotein hormone receptors. Since there is an ongoing worldwide search for certain clinical phenotypes that might be caused by mutations of these receptors, there is a demand for strategies and techniques that can be used to screen patients in a effective and reliable way. This article focuses, therefore, on patient selection and techniques for the detection of mutations of glycoprotein hormone receptors, and compiles useful laboratory protocols to conduct such studies.
Gromoll
J
J
Institute of Reproductive Medicine, University of Münster, Domagkstrasse 11, Münster, D-48129, Germany. gromolj@uni-muenster.de
Bröcker
M
M
Derwahl
M
M
Höppner
W
W
D000483:Alleles; D000818:Animals; D019556:COS Cells; D002883:Chromosomes, Human, Pair 14; D000242:Cyclic AMP / Q000096:biosynthesis; D004252:DNA Mutational Analysis / Q000379:methods*; D004305:Dose-Response Relationship, Drug; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary; D011962:Receptors, FSH / Q000737:chemistry* / Q000235:genetics; D011974:Receptors, LH / Q000737:chemistry* / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000737:chemistry* / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D015398:Signal Transduction
D011962:Receptors, FSH; D011974:Receptors, LH; D011989:Receptors, Thyrotropin; D000242:Cyclic AMP