Back to Search
Start Over
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
- Source :
- 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
- Publication Year :
- 2006
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 10614036 and 15461718
- Volume :
- 38
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....46df26ffb175448a73f1a131efed414b