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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Stoetzel, C; Laurier, V; Davis, EE; Muller, J; Rix, S; Badano, JL; Leitch, CC; Salem, N; Chouery, E; Corbani, S; Jalk, N; Vicaire, S; Sarda, P; Hamel, C; Lacombe, D; Holder, M; Odent, S; Holder, S; Brooks, AS; Elcioglu, NH; Silva, ED; Rossillion, B; Sigaudy, S; de Ravel, TJL; Lewis, RA; Leheup, B; Verloes, A; Amati-Bonneau, P; Mégarbané, A; Poch, O; Bonneau, D; Beales, PL; Mandel, J-L; Katsanis, N; Dollfus, H

Published Date

  • May 2006

Published In

Volume / Issue

  • 38 / 5

Start / End Page

  • 521 - 524

PubMed ID

  • 16582908

Pubmed Central ID

  • 16582908

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1771


  • eng

Conference Location

  • United States