Dominant-negative diabetes insipidus and other endocrinopathies
John A. Phillips III
John A. Phillips III
Published December 1, 2003
Citation Information: J Clin Invest. 2003;112(11):1641-1643. https://doi.org/10.1172/JCI20441.
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Commentary

Dominant-negative diabetes insipidus and other endocrinopathies

Abstract

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.

Authors

John A. Phillips III

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Figure 1

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Relationships of levels of gene expression, reflected as the activity of...
Relationships of levels of gene expression, reflected as the activity of single homologous alleles (left) and the sum of the activities of the two homologous alleles (right). The dashed line represents the minimal sum of allelic activity required to prevent autosomal recessive (a), autosomal dominant (b), and dominant-negative (c) disorders.