PUBLICATION
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Authors
- Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Megarbane, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., and Dollfus, H.
- ID
- ZDB-PUB-060412-8
- Date
- 2006
- Source
- Nature Genetics 38(5): 521-524 (Journal)
- Registered Authors
- Davis, Erica, Katsanis, Nicholas
- Keywords
- none
- MeSH Terms
-
- Bardet-Biedl Syndrome/genetics*
- Cohort Studies
- Humans
- Mutation
- Proteins/genetics*
- Proteins/metabolism
- PubMed
- 16582908 Full text @ Nat. Genet.
Citation
Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Megarbane, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., and Dollfus, H. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38(5):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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping