Constitutively active luteinizing hormone receptors: consequences of in vivo expression.
Activating mutations in the luteinizing hormone receptor (LHR) gene are one of the most common mutations found in the gonadotropin receptor genes. Human males with these mutations exhibit precocious puberty while females do not have an obvious phenotype. To better understand the pathophysiology of premature LHR activation, transgenic mice have been generated with an activating mutation in LHR and a genetically engineered ligand-activated LHR. This review will summarize the major findings obtained with these two genetically modified mouse models and briefly discuss the similarities and differences between them and with the human phenotype.
Meehan
Thomas P
TP
Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Narayan
Prema
P
D000818:Animals; D005835:Genitalia / Q000166:cytology / Q000473:pathology; D006801:Humans; D050505:Mutant Proteins / Q000737:chemistry / Q000378:metabolism; D010641:Phenotype; D011627:Puberty; D011974:Receptors, LH / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction
D050505:Mutant Proteins; D011974:Receptors, LH