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| Item Type: | Article |
|---|---|
| Title: | Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus |
| Creators Name: | Oksche, A., Moeller, A., Dickson, J., Rosendahl, W., Rascher, W., Bichet, D.G. and Rosenthal, W. |
| Abstract: | The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was sequenced. A novel G to T transversion at codon 202, predictive of an exchange of tryptophan 202 by cysteine, was identified. As the mutation occurs at G-1 of the 5' splice donor site of intron 3, aberrant splicing is also likely. The mutation involves one of the supposed water pore-forming loops. Therefore, both aberrant splicing and amino acid substitution are likely to result in a functionally defective protein. Sequencing of the complete V2R gene of the male patient of family 2 revealed a novel single-base deletion at codon 310 (delta C1001), shifting the reading frame to give an altered amino acid sequence beginning at codon 311. The mutation is unique in predicting a C-terminally extended protein (termination after codon 434 in the mutant receptor instead of codon 371 in the wild-type). The deduced mutant protein is likely to be nonfunctional since the amino acid sequence of the seventh transmembrane domain and the C-terminus is altered. |
| Keywords: | Amino Acid Sequence, Aquaporin 2, Aquaporin 6, Aquaporins, DNA Mutational Analysis, Nephrogenic Diabetes Insipidus, Gene Deletion, Infant, Ion Channels, Molecular Models, Molecular Sequence Data, Mutation, Vasopressin Receptors, Restriction Mapping |
| Source: | Human Genetics |
| ISSN: | 0340-6717 |
| Publisher: | Springer |
| Volume: | 98 |
| Number: | 5 |
| Page Range: | 587-589 |
| Date: | November 1996 |
| Official Publication: | https://doi.org/10.1007/s004390050264 |
| PubMed: | View item in PubMed |
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