Mild nephrogenic diabetes insipidus caused by Foxa1 deficiency.

The Journal of Biological Chemistry
Rüdiger BehrKlaus H Kaestner

Abstract

Foxa1 is a member of the winged helix family of transcription factors and is expressed in the collecting ducts of the kidney. We investigated its potential contribution to renal physiology in Foxa1-deficient mice on a defined genetic background. Foxa1(-/-) mice are dehydrated and exhibit electrolyte imbalance as evidenced by elevated hematocrit and plasma urea levels, hypernatremia, and hyperkalemia. This phenotype is the consequence of decreased urine osmolality secondary to renal vasopressin resistance. Mutations of the human genes encoding the vasopressin 2 receptor and aquaporin 2 cause nephrogenic diabetes insipidus; however, expression of these genes is maintained or increased, respectively, in Foxa1(-/-) mice. Likewise, expression of the genes encoding the Na-K-2Cl cotransporter (NKCC2), the potassium channel ROMK, the chloride channel CLCNKB, barttin (BSND), and the calcium-sensing receptor (CASR), each of which is important in sodium reabsorption in the loop of Henle, is maintained or even increased in Foxa1-deficient mice. Thus, we have shown that Foxa1(-/-) mice represent a new model of nephrogenic diabetes insipidus with unique molecular etiology, and we have identified the first transcription factor whose mutation ...Continue Reading

References

May 1, 1990·Trends in Neurosciences·M R MontminyK K Yamamoto
Feb 14, 1995·Proceedings of the National Academy of Sciences of the United States of America·S NielsenM A Knepper
Sep 1, 1995·The American Journal of Physiology·K D WuJ Lytton
Jun 1, 1996·The American Journal of Physiology·S HozawaD A Ausiello
Jul 30, 2002·Diabetes·Catherine S LeeKlaus H Kaestner
Mar 6, 2003·Clinical Medicine : Journal of the Royal College of Physicians of London·Kevin MoorePeter Trainer
Oct 31, 2003·Clinical and Experimental Nephrology·Minhtri K NguyenIra Kurtz

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Citations

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Jan 10, 2012·Proceedings of the National Academy of Sciences of the United States of America·Chang-Yi CuiDavid Schlessinger
Feb 3, 2016·Genetics, Selection, Evolution : GSE·Lucas L VerardoSimone E F Guimarães
Nov 26, 2011·Bioscience Reports·Gina M Bernardo, Ruth A Keri
Apr 25, 2016·Biochemical and Biophysical Research Communications·Neda YahooHossein Baharvand
Feb 27, 2016·Genesis : the Journal of Genetics and Development·Yi LiuZhaoyu Li
Dec 15, 2016·Development·Maria L Golson, Klaus H Kaestner
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Nov 1, 2006·Expert Review of Endocrinology & Metabolism·Angela SchulzTorsten Schöneberg
Jan 21, 2010·Physiological Reviews·John Le Lay, Klaus H Kaestner
Oct 12, 2007·Physiological Reviews·Robert A Fenton, Mark A Knepper
May 4, 2006·The Journal of Immunology : Official Journal of the American Association of Immunologists·Geoffrey O Gillard, Andrew G Farr
Dec 12, 2020·Trends in Genetics : TIG·Laetitia HermanReiner A Veitia

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