Technical Reference #253

253.

Four Naturally Occurring Mutations In The Human Gnrh Receptor Affect Ligand Binding And Receptor Function Bédécarratsa;G.Y.; Linhera;K.D.; Janovickb; JA.; Beranovac; M.; Kadaa; F.; Seminarac; S.B.; Connb; P. M.; and Kaisera; U.B.; a Division of Endocrinology; Diabetes and Hypertension; Department of Medicine; Brigham and Women's Hospital and Harvard Medical, Brigham & Women's Hospital, Molecular and Cellular Endocrinology, 205(253), (2003)

Abstract:
In the present study we performed functional analyses of four mutations in the human GnRH receptor (GnRHR) gene identified in patients with idiopathic hypogonadotropic hypogonadism. These mutations result in amino acid substitutions in the extracellular

Keywords:
GnRH; GnRH receptor; Gonadotrope; Signal transduction

Materials & Methods:
COS-7 cells were plated on glass bottom 35 mm tissue culture dishes (MatTek Corp. Ashland MA) and transiently transfected using GenePorter transfection reagent (Gene Therapy System San Diego CA) with 2 µg of wild type or mutant hGnRHR cDNA constructs

Microscopic Technique
Confocal Microscopy

Cell Type(s)
COS-7