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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
Nature Genetics, Volume 44, No. 4, Year 2012
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Description
Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na +-Cl - cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Louis-Dit-Picard, Hélène
France, Paris
Inserm
France, Paris
Université Paris Cité
France, Paris
Hôpital Européen Georges-pompidou
Barc, Julien
France, Nantes
Nantes Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
Trujillano, Daniel
Spain, Barcelona
Centro de Regulacion Genomica, Barcelona
Spain, Madrid
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
Miserey-Lenkei, Stéphanie
France, Paris
Biologie Cellulaire et Cancer
Bouatia-Naji, Nabila
France, Paris
Inserm
France, Paris
Université Paris Cité
Pylypenko, Olena
France, Paris
Biologie Cellulaire et Cancer
Beaurain, Geneviève
France, Paris
Inserm
France, Paris
Université Paris Cité
France, Paris
Hôpital Européen Georges-pompidou
Bonnefond, Amélie
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Sand, Olivier
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Simian, Christophe
France, Paris
Hôpital Européen Georges-pompidou
Vidal-Petiot, Emmanuelle
France, Paris
Inserm
France, Paris
Université Paris Cité
Soukaseum, Christelle
France, Paris
Inserm
France, Paris
Université Paris Cité
Mandet, Chantal
France, Paris
Inserm
France, Paris
Université Paris Cité
Broux, Françoise
France, Rouen
Hopital Charles Nicolle
Chabre, Olivier
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Delahousse, Michel
France, Suresnes
Hopital Foch
Esnault, Vincent L. M.
France, Nice
Centre Hospitalier Universitaire de Nice, Hôpital Pasteur
France, Nice
Université Côte D'azur
Fiquet, Béatrice
France, Paris
Hôpital Européen Georges-pompidou
Houillier, Pascal
France, Paris
Université Paris Cité
France, Paris
Hôpital Européen Georges-pompidou
France, Paris
Centre de Recherche Des Cordeliers
Isnard-Bagnis, Corinne
France, Paris
Hôpital Universitaire Pitié Salpêtrière
König, Jens Christian
Germany, Munster
Universitätsklinikum Münster
Konrad, Martin A.
Germany, Munster
Universitätsklinikum Münster
Landais, Paul
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Mourani, Chebel
Lebanon, Beirut
Hôtel-dieu de France Hospital
Niaudet, Patrick
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Probst, Vincent
France, Nantes
Nantes Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Nantes
L'institut du Thorax
Thauvin, Christel
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
France, Dijon
Université de Bourgogne
Unwin, Robert John
United Kingdom, London
Ucl Medical School
Soroka, Steven Demetri
Canada, Halifax
Dalhousie University, Faculty of Medicine
Ehret, Georg B.
United States, Baltimore
Johns Hopkins School of Medicine
Switzerland, Geneva
Université de Genève
Ossowski, Stephan
Spain, Barcelona
Centro de Regulacion Genomica, Barcelona
Caulfield, Mark J.
United Kingdom, London
Barts and the London School of Medicine and Dentistry
Bruneval, Patrick
France, Paris
Inserm
France, Paris
Université Paris Cité
France, Paris
Hôpital Européen Georges-pompidou
Estivill, Xavier
Spain, Barcelona
Centro de Regulacion Genomica, Barcelona
Spain, Madrid
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
Spain, Barcelona
Universitat Pompeu Fabra Barcelona
Froguel, Philippe
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
United Kingdom, London
Hammersmith Hospital
Hadchouel, Juliette
France, Paris
Inserm
France, Paris
Université Paris Cité
Schott, Jean Jacques
France, Nantes
Nantes Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
Spain, Barcelona
Centro de Regulacion Genomica, Barcelona
France, Nantes
L'institut du Thorax
Jeunemaítre, Xavier P.
France, Paris
Inserm
France, Paris
Université Paris Cité
France, Paris
Hôpital Européen Georges-pompidou
Statistics
Citations: 262
Authors: 38
Affiliations: 30
Identifiers
Doi:
10.1038/ng.2218
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Noncommunicable Diseases