New Naturally Occurring Missense Mutations of the Human Mineralocorticoid Receptor Disclose Important Residues Involved in Dynamic Interactions with Deoxyribonucleic Acid, Intracellular Trafficking, and Ligand Binding

Abstract excerpt

We have investigated the functional consequences of three naturally occurring amino acid substitutions of the human mineralocorticoid receptor (hMR). These mutations are located in the DNA-binding domain and the ligand-binding domain (LBD) and are associated with autosomal dominant or sporadic type I pseudohypoaldosteronism. All mutant receptors bound specifically to glucocorticoid-responsive elements but...

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