Dominant-negative diabetes insipidus and other endocrinopathies.
Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.
Phillips
John A
JA
Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA. john.a.phillips@vanderbilt.edu
D000818:Animals; D001127:Arginine Vasopressin / Q000096:biosynthesis / Q000235:genetics*; D020790:Diabetes Insipidus, Neurogenic / Q000235:genetics* / Q000473:pathology*; D007031:Hypothalamus / Q000473:pathology*; D051379:Mice; D009154:Mutation; D009474:Neurons / Q000473:pathology*; D011498:Protein Precursors / Q000235:genetics*
D011498:Protein Precursors; D001127:Arginine Vasopressin