Nature Genetics
- 38, 521 - 524 (2006)
Published online: 2 April 2006; | doi:10.1038/ng1771
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel1, 24, Virginie Laurier1, 2, 24, Erica E Davis3, 24, Jean Muller4, 5, 24, Suzanne Rix6, José L Badano3, Carmen C Leitch3, Nabiha Salem7, Eliane Chouery7, Sandra Corbani7, Nadine Jalk7, Serge Vicaire4, Pierre Sarda8, Christian Hamel9, Didier Lacombe10, Muriel Holder11, Sylvie Odent12, Susan Holder13, Alice S Brooks14, Nursel H Elcioglu15, Eduardo D Silva16, Béatrice Rossillion17, Sabine Sigaudy18, Thomy J L de Ravel19, Richard Alan Lewis20, Bruno Leheup21, Alain Verloes22, Patrizia Amati-Bonneau23, André Mégarbané7, Olivier Poch4, Dominique Bonneau23, Philip L Beales6, Jean-Louis Mandel4, Nicholas Katsanis3 & Hélène Dollfus1, 21
Laboratoire de Génétique Médicale EA 3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 67085 Strasbourg, France. 2
Service de Génétique Médicale et Centre de Référence pour les Affections Génétiques Ophtalmologiques, Hôpitaux Universitaires de Strasbourg, 67098 Strasbourg, France. 3
McKusick-Nathans Institute of Genetic Medicine and Departments of Ophthalmology and Molecular Biology and Genetics, John Hopkins University, Baltimore, Maryland, 21205 USA. 4
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre Nationale de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Université Louis Pasteur, Collège de France, 67404 Illkirch, Communauté Urbaine de Strasbourg, France. 5
Laboratoire de Biologie Moléculaire, d'Analyse Génique et de Modélisation, Centre de Recherche Public-Santé, L-1911 Luxembourg. 6
Institute of Child Health, Molecular Medicine Unit, University College London, London WC1N 1EH, UK. 7
Unité de Génétique Médicale, Université Saint Joseph Faculté de Médecine, 1000 Beirut, Lebanon. 8
Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) Hôpital Arnaud de Villeneuve, 34295 Montpellier, France. 9
Institut des Neurosciences de Montpellier, CHU Hôpital Saint-Eloi, 34295 Montpellier, France. 10
Service de génétique médicale, CHU Hôpital Pellegrin, 33076 Bordeaux, France. 11
Service de génétique clinique, CHU Hôpital Jeanne de Flandres, 59037 Lille, France. 12
Unité de Génétique Médicale, CHU Hôpital Sud, 35203 Rennes, France. 13
Kennedy Galton Centre, Northwick Park & St. Marks NHS Trust, HA 1 3UJ, Harrow, UK. 14
Department of Clinical Genetics, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands. 15
Department of Pediatric Genetics, Marmara University Hospital, 34668 Istanbul, Turkey. 16
Department of Ophthalmology, University Hospital of Coimbra, 3041-853 Coimbra, Portugal. 17
Service d'Ophtalmologie, Hôpital Cantonal Universitaire de Genève, 1211 Geneva, Switzerland. 18
Service de Génétique Médicale, CHU de la Timone, 13385 Marseille, France. 19
Centre for Human Genetics, University Hospital Gasthuisberg, 3000 Leuven, Belgium. 20
Departments of Ophthalmology, Pediatrics, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. 21
Service de Génétique, CHU d'Enfants Brabois, 54500 Vandoeuvre-les-Nancy, France. 22
Unité de Génétique Clinique, Hôpital Robert Debré, 75935 Paris, France. 23
Service de Génétique, CHU, 49933 Angers, France. 24
These authors contributed equally to this work.
Correspondence should be addressed to Hélène Dollfus helene.dollfus@medecine.u-strasbg.fr 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.
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