| Literature DB >> 16582908 |
Corinne Stoetzel1, Virginie Laurier, Erica E Davis, Jean Muller, Suzanne Rix, José L Badano, Carmen C Leitch, Nabiha Salem, Eliane Chouery, Sandra Corbani, Nadine Jalk, Serge Vicaire, Pierre Sarda, Christian Hamel, Didier Lacombe, Muriel Holder, Sylvie Odent, Susan Holder, Alice S Brooks, Nursel H Elcioglu, Eduardo D Silva, Eduardo Da Silva, Béatrice Rossillion, Sabine Sigaudy, Thomy J L de Ravel, Richard Alan Lewis, Bruno Leheup, Alain Verloes, Patrizia Amati-Bonneau, André Mégarbané, Olivier Poch, Dominique Bonneau, Philip L Beales, Jean-Louis Mandel, Nicholas Katsanis, Hélène Dollfus.
Abstract
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.Entities:
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Year: 2006 PMID： 16582908 DOI： 10.1038/ng1771
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330