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

被引：212

作者：

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

Da Silva, E

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, JL

Katsanis, N

Dollfus, H ^{[1
]}

机构：

[1] Univ Strasbourg 1, Fac Med Strasbourg, Med Genet Lab, EA 3949, F-67085 Strasbourg, France

[2] Hop Univ Strasbourg, Serv Genet Med, F-67098 Strasbourg, France

[3] Hop Univ Strasbourg, Ctr Reference Affect Genet Ophtalmol, F-67098 Strasbourg, France

[4] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[5] Johns Hopkins Univ, Dept Ophthalmol, Baltimore, MD 21205 USA

[6] Johns Hopkins Univ, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

[7] Univ Strasbourg 1, Coll France, Inst Genet & Biol Mol & Cellulaire, CNRS,INSERM, F-67404 Illkirch Graffenstaden, France

[8] Communaute Urbaine Strasbourg, Strasbourg, France

[9] Ctr Rech Publ Sante, Lab Biol Mol Anal Genet & Modelisat, L-1911 Luxembourg, Luxembourg

[10] UCL, Mol Med Unit, Inst Child Hlth, London WC1N 1EH, England

[11] Univ St Joseph, Fac Med, Unite Genet Med, Beirut 1000, Lebanon

[12] CHU Montpellier, Hop Arnaud de Villeneuve, Serv Genet Med, F-34295 Montpellier, France

[13] CHU Montpellier, Hop St Eloi, Inst Neurosci Montpellier, F-34295 Montpellier, France

[14] CHU, Hop Pellegrin, Serv Genet Med, F-33076 Bordeaux, France

[15] CHU Lille, Hop Jeanne de Flandres, Serv Genet Clin, F-59037 Lille, France

[16] CHU Hop Sud, Unite Genet Med, F-35203 Rennes, France

[17] Northwick Pk & St Marks NHS Trust, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England

[18] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

[19] Marmara Univ Hosp, Dept Pediat Genet, TR-34668 Istanbul, Turkey

[20] Univ Hosp Coimbra, Dept Ophthalmol, P-3041853 Coimbra, Portugal

[21] Univ Geneva, Hop Cantonal, Serv Ophtalmol, CH-1211 Geneva, Switzerland

[22] CHU Timone, Serv Genet Med, F-13385 Marseille, France

[23] Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium

[24] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[25] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[26] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[27] CHU Enfants Brabois, Serv Genet, F-54500 Vandoeuvre Les Nancy, France

[28] Hop Robert Debre, Unite Genet Clin, F-75935 Paris, France

[29] CHU Angers, Serv Genet, F-49933 Angers, France

来源：

NATURE GENETICS | 2006年 / 38卷 / 05期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

D O I：

10.1038/ng1771

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：521 / 524

页数：4

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