BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica Ellen 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. ElciogluEduardo 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, Elias Nicholas Katsanis, Hélène Dollfus*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

230 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)521-524
Number of pages4
JournalNature Genetics
Issue number5
StatePublished - May 2006

ASJC Scopus subject areas

  • Genetics


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