A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 5, 1996, Pages 1787-1790

  Ueta, Yoshihiko ^a   Taniguchi, Shinichi ^a   Yoshida, Akio ^a   Murakami, Isao ^b   Mitani, Yasuo ^a   Hisatome, Ichiro ^a   Manabe, Ichiro ^a   Sato, Ryoichi ^c   Tsuboi, Mariko ^a   Ohtahara, Akira ^a   Nanba, Eiji ^a   Shigemasa, Chiaki ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b Saiseikai Sakaiminato Gen Hospital   (Japan)

^c KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; NEUROPHYSIN; VASOPRESSIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; DIABETES INSIPIDUS; DNA DETERMINATION; DNA SEQUENCE; FAMILIAL DISEASE; FAMILY STUDY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ARGININE VASOPRESSIN; BASE SEQUENCE; DIABETES INSIPIDUS; EXONS; FEMALE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; NEUROPHYSINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYURIA; SEQUENCE ANALYSIS, DNA;

EID: 9344256023     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.5.1787     Document Type: Article

References (31)

1. Forssman H. 1945 On hereditary diabetes insipidus with special regard to a sex-linked form. Acta Med Scand. 159[Suppl]:1-196.
2. Pender CB, Fraser FC. 1953 Dominant inheritance of diabetes insipidus. Pediatrics. 11:246-254.
3. Martin FIR. 1959 Familial diabetes insipidus. QJ Med. 28:573-582.
4. Braverman LE, Mancini JP, McGoldrick DM. 1965 Hereditary idiopathic diabetes insipidus, a case report with autopsy findings. Ann Intern Med. 63:503-508.
5. Baylis PH, Robertson GL. 1981 Vasopressin function in familial cranial diabetes insipidus. Postgrad Med J. 57:36-40.
6. Kaplowits PB, D'Ercole AJ, Robertson GL. 1982 Radioimmunoassay of vasopressin in familial central diabetes insipidus. J Pediatr. 100:76-81.
7. Ito M, Mori Y, Osio Y, Saiato H. 1991 A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 87:725-728.
8. Bahansen U, Oosting P, Swaab DF, Nahke P, Richter D, Schmale H. 1992 A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO J. 11:19-23.
9. Green JR, Buchan GC, Alvord EC, Swanson AG. 1967 Hereditary and idiopathic types of diabetes insipidus. Brain. 90:707-714.
10. Andersson KE, Arner B, Fürst E, Hedner P. 1974 Antidiuretic responses to hypertonic saline infusion, water deprivation, and a synthetic analogue of vasopressin in patients with hereditary, hypothalamic diabetes insipidus. Acta Med Scand. 195:17-23.
11. Land H, Shütz G, Schmale H, Richter D. 1982 Nucleotide sequence of cloned cDNA encoding bovine arginin vasopressin-neurophysin II precursor. Nature. 295:299-303.
12. Riddle DC, Mallonee R, Phillips JA, Parks JS, Sexton LA, Hammerton JL. 1985 Chromosomal assignment of human sequences encoding arginin vasopressin-neurophysin II and growth hormone releasing factor. Somat Cell MoI Genet. 11:189-195.
13. Schmale H, Heinsohn S, Richter D. 1983 Structural organization of the rat gene for the arginine vasopressin-neurophysin precursor. EMBO J. 2:763-767.
14. Brownstein MJ, Russel JT, Gainer H. 1980 Synthesis transport, and release of posterior pituitary hormones. Science. 207:373-378.
15. Sausville E, Carney D, Battey J. 1985 The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J Biol Chem. 260:10236-10241.
16. Yuasa H, Ito M, Nagasaki H, et al. 1993 Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. J Clin Endocrinol Metab. 77:600-604.
17. Krishnamani MRS, Phillips III JA, Copeland KC. 1993 Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. J Clin Endocrinol Metab. 77:596-598.
18. Ito M, Osio Y, Murase T, et al. 1993 Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J Clin Invest. 91:2565-2571.
19. Breslow E. 1979 Chemistry and biology of the neurophysins. Annu Rev Biochem. 48:251-274.
20. Rholam M, Nicolas P, Cohen P. 1982 Binding of neurophyseal peptides to neurophysin dimer promotes formation of compact and spherical complexes. Biochemistry. 21:4968-4973.
21. North WG. 1987 Biosynthesis of vasopressin and neurophysins. In: Gash DM and Boer GJ, eds. Vasopressin. Principles and properties. New York: Plenum Publishing Corp; 175-209.
22. Fassina G, Chaiken IM. 1988 Structural requirements of peptide hormone binding for peptide-potentiated self-association of bovine neurophysin II. J Biol Chem. 263:13539-13543.
23. Balaram P, Bothner-By AA, Breslow E. 1973 Nuclear magnetic resonance studies of the interaction of peptides and hormones with bovine neurophysin. Biochemistry. 12:4695-4704.
24. Peyton D, Sardana V, Breslow E. 1986 Dimerization of native and proteolytically modified neurophysins as monitored by proton magnetic resonance spectroscopy:proximity of tyrosine-49 to the subunit interface. Biochemistry. 25:6579-6586.
25. Chen L, Rose JP, Breslow E, et al. 1991 Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom. Proc Natl Acad Sci USA. 88:4240-4244.
26. Nagai I, Li CH, Hsieh SM, Kizaki T, Urano Y. 1984 Tow cases of hereditary diabetes insipidus, with an autopsy findings in one. Acta Endocrinol (Copenh). 105:318-323.
27. Bergeron C, Kovacs K, Ezrin C, Mizzen C. 1991 Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. Acta Neuropathol(Berl). 81:345-348.
28. Schmale H, Richter D. 1984 Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats. Nature. 308:705-709.
29. Schmale H, Borowiak B, Holtgreve-Gres H, Richter D. 1989 Impact of altered protein structures on the intracellular traffic of a mutated vasopressin precursor from Brattleboro rats. Eur J Biochem. 182:621-627.
30. Guldenaar SEF, Nahke P, Pickering BT. 1986 Immunocytochemical evidence for the presence of a mutant vasopressin precursor in the supraoptic nucleus of the homozygous Brattleboro rat. Cell Tissue Res. 244:431-436.
31. Krisch B, Nahke P, Richter D. 1986 Immunocytochemical staining of supraoptic neurons from homozygous Brattleboro rats by use of antibodies against two domains of the mutated vasopressin precursor. Cell Tissue Res. 244:351-358.