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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Nature Genetics, Volume 38, No. 5, Year 2006
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Description
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. © 2006 Nature Publishing Group.
Authors & Co-Authors
Stoetzel, Corinne
France, Strasbourg
Université de Strasbourg
Laurier, Virginie
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Davis, Erica E.
United States, Baltimore
Johns Hopkins Medicine
Muller, Jean Denis
France, Paris
Cnrs Centre National de la Recherche Scientifique
Luxembourg, Strassen
Luxembourg Institute of Health
Rix, Suzanne
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Badano, José L.
United States, Baltimore
Johns Hopkins Medicine
Leitch, C. C.
United States, Baltimore
Johns Hopkins Medicine
Salem, Nabiha
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Corbani, Sandra
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Jalk, Nadine
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Vicaire, Serge
France, Paris
Cnrs Centre National de la Recherche Scientifique
Sarda, Pierre
France, Montpellier
Hopital Arnaud de Villeneuve
Hamel, Christian P.
France, Montpellier
Hôpital Saint Eloi
Lacombe, Didier
France, Bordeaux
Groupe Hospitalier Pellegrin
Holder, Muriel
France, Lille
Chu Lille
Odent, Sylvie
France, Rennes
Hopital Sud Chu Rennes
Holder, Susan
United Kingdom, Harrow
London North West University Healthcare Nhs Trust
Brooks, Alice S.
Netherlands, Rotterdam
Erasmus Mc
Elçioǧlu, Nursel H.
Turkey, Istanbul
Marmara Üniversitesi Tip Fakültesi
Da Silva, Eduardo
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Rossillion, Béatrice
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Sigaudy, Sabine
France, Marseille
Hopital la Timone
de Ravel, Thomy J.L.
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Lewis, R. A.
United States, Houston
Baylor College of Medicine
Leheup, Bruno P.
France, Vandoeouvre-les-nancy
Hôpital Brabois Adultes
Verloès, Alain
France, Paris
Hôpital Robert-debré Ap-hp
Amati-Bonneau, Patrizia
France, Angers
Chu Angers
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Poch, Olivier
France, Paris
Cnrs Centre National de la Recherche Scientifique
Bonneau, Dominique
France, Angers
Chu Angers
Beales, Philip L.Philip L.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Mandel, Jean Louis
France, Paris
Cnrs Centre National de la Recherche Scientifique
Katsanis, Nicholas
United States, Baltimore
Johns Hopkins Medicine
Dollfus, Hélène J.
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Statistics
Citations: 300
Authors: 35
Affiliations: 23
Identifiers
Doi:
10.1038/ng1771
ISSN:
10614036
e-ISSN:
15461718
Study Design
Cohort Study