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Title: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Authors: 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
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 #
Issue Date: May-2006
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:38 issue:5 pages:521-524
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

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