BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
| Autor: | 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, 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 |
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| Přispěvatelé: | Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Chaire Génétique Humaine, Collège de France (CdF (institution)), Clinical Genetics, Clinical sciences, Medical Genetics, Institute for European Studies |
| Rok vydání: | 2006 |
| Předmět: |
BBS2
congenital hereditary and neonatal diseases and abnormalities MESH: Mutation BBS1 BBS7 Locus (genetics) Biology 03 medical and health sciences 0302 clinical medicine Bardet–Biedl syndrome MESH: Bardet-Biedl Syndrome Genetics medicine Humans MESH: Proteins Bardet-Biedl Syndrome MESH: Cohort Studies 030304 developmental biology 0303 health sciences MESH: Humans Proteins Oligogenic Inheritance [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology medicine.disease Ciliopathy Proteins/genetics Cohort studies BBS12 mutation Bardet-Biedl Syndrome/genetics 030217 neurology & neurosurgery |
| Zdroj: | Nature Genetics Nature Genetics, Nature Publishing Group, 2006, 38 (5), pp.521-4. ⟨10.1038/ng1771⟩ Nature Genetics, 38(5), 521-524. Nature Publishing Group |
| ISSN: | 1061-4036 1546-1718 |
| DOI: | 10.1038/ng1771 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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