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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Nature volume 359, pages 233235 (17 September 1992) | Download Citation

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Abstract

ANTIDIURETIC hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting tubule cells. Subsequent stimulation of the Gs/adenylyl cyclase system promotes insertion of water pores into the luminal membrane and thereby reabsorption of fluid. In congenital nephrogenic diabetes insipidus (CNDI)1, an X-linked recessive disorder, the kidney fails to respond to arginine vasopressin. Here we report that an affected male of a family with CNDI2,3 has a deletion in the open reading frame of the V2 receptor gene, causing a frame shift and premature termination of translation in the third intracellular loop of the receptor protein. A normal receptor gene was found in the patient's brother. Both the normal and the mutant allele were detected in his mother. A different mutation, causing a codon change in the third transmem-brane domain of the V2 receptor, was found in the open reading frame of an affected male but not in the unaffected brother belonging to another family suffering from CNDI.

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References

  1. 1.

    & in The Metabolic Basis of Inherited Disease 6th edn (eds Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D.) 1985–2011 (McGraw-Hill, New York, 1989).

  2. 2.

    et al. New Engl. J. Med. 318, 881–887 (1988).

  3. 3.

    et al. Am. J. hum. Genet. (in the press).

  4. 4.

    , , & Am. J. hum. Genet. (in the press).

  5. 5.

    et al. Science 239, 487–491 (1988).

  6. 6.

    , , & J. biol. Chem. 265, 20430–20436 (1990).

  7. 7.

    , & Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).

  8. 8.

    et al. Nature 357, 333–335 (1992).

  9. 9.

    et al. Science 240, 1310–1316 (1988).

  10. 10.

    , , , & Proc. natn. Acad. Sci. U.S.A. 88, 8840–8844 (1991).

  11. 11.

    et al. Nephron 50, 187–190 (1988).

  12. 12.

    , , & J. biol. Chem. 265, 15379–15382 (1990).

  13. 13.

    & Proc. natn. Acad. Sci. U.S.A. 85, 7652–7656 (1988).

  14. 14.

    & J. molec. Biol. 157, 105–132 (1982).

  15. 15.

    et al. Kidney Int. 36, 859–866 (1989).

  16. 16.

    & J. clin. Endocr. Metab. 55, 699–702 (1982).

  17. 17.

    et al. New Engl. J. Med. 322, 1412–1419 (1988).

  18. 18.

    & Meth. Enzym. 152, 199–212 (1987).

  19. 19.

    in DNA Cloning (ed. Glover, D. M.) 109–135 (IRL, Oxford, 1985).

  20. 20.

    , & Molecular Cloning (Cold Spring Harbor Laboratory Press, New York 1989).

  21. 21.

    , & in Methods in Molecular Biology Vol. 8 (ed. Mathew, C.) 9–20 (Human Press, Clifton, New York, 1991).

  22. 22.

    , , & Biochemistry 85, 8459–8463 (1988).

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Author information

Affiliations

  1. Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA

    • Walter Rosenthal
    • , Anita Seibold
    • , Anaid Antaramian
    •  & Mariel Birnbaumer
  2. Service de Néphrologie, Centre de Recherche, Hôpital du Sacre-Coeur de Montréal et Département de Médecine, Université de Montréal, Montréal, Québec H4J 1C5, Canada

    • Michèle Lonergan
    • , Marie-Francoise Arthus
    • , Geoffrey N. Hendy
    •  & Daniel G. Bichet

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https://doi.org/10.1038/359233a0

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