Article
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nature genetics - 1 May 2006
Stoetzel Corinne, Laurier Virginie, Davis Erica E, Muller Jean, Rix Suzanne, Badano José L, Leitch Carmen C, Salem Nabiha, Chouery Eliane, Corbani Sandra, Jalk Nadine, Vicaire Serge, Sarda Pierre, Hamel Christian, Lacombe Didier, Holder Muriel, Odent Sylvie, Holder Susan, Brooks Alice S, Elcioglu Nursel H, Silva Eduardo D, Da Silva Eduardo, Rossillion Béatrice, Sigaudy Sabine, de Ravel Thomy J L, Lewis Richard Alan, Leheup Bruno, Verloes Alain, Amati-Bonneau Patrizia, Mégarbané André, Poch Olivier, Bonneau Dominique, Beales Philip L, Mandel Jean-Louis, Katsanis Nicholas, Dollfus Hélène
Abstract excerpt
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,...
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