Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2.

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

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Laboratoire de Génétique Médicale EA 3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 67085 Strasbourg, France.

Erratum in

Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D].

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.

PMID:: 16582908; [PubMed - indexed for MEDLINE]

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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. [Am J Hum Genet. 2007]
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, et al. Am J Hum Genet. 2007 Jan; 80(1):1-11. Epub 2006 Nov 15.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. [J Med Genet. 2010]
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, et al. J Med Genet. 2010 Jul; 47(7):453-63. Epub 2010 May 14.
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Review Establishing a connection between cilia and Bardet-Biedl Syndrome. [Trends Mol Med. 2004]
Review Establishing a connection between cilia and Bardet-Biedl Syndrome.
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS l...
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet. 2006 May ;38(5):521-4. Epub 2006 Apr 2 .

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