BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
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.
Laboratoire de Génétique Médicale EA 3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 67085 Strasbourg, France.
Corinne
C
Stoetzel
Virginie
V
Laurier
Erica E
EE
Davis
Jean
J
Muller
Suzanne
S
Rix
José L
JL
Badano
Carmen C
CC
Leitch
Nabiha
N
Salem
Eliane
E
Chouery
Sandra
S
Corbani
Nadine
N
Jalk
Serge
S
Vicaire
Pierre
P
Sarda
Christian
C
Hamel
Didier
D
Lacombe
Muriel
M
Holder
Sylvie
S
Odent
Susan
S
Holder
Alice S
AS
Brooks
Nursel H
NH
Elcioglu
Eduardo D
ED
Silva
Eduardo
E
Da Silva
Béatrice
B
Rossillion
Sabine
S
Sigaudy
Thomy J L
TJ
de Ravel
Richard Alan
RA
Lewis
Bruno
B
Leheup
Alain
A
Verloes
Patrizia
P
Amati-Bonneau
André
A
Mégarbané
Olivier
O
Poch
Dominique
D
Bonneau
Philip L
PL
Beales
Jean-Louis
JL
Mandel
Nicholas
N
Katsanis
Hélène
H
Dollfus
D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D015331:Cohort Studies; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics* / Q000378:metabolism
C473309:Bbs2 protein, human; D011506:Proteins