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.
Stoetzel
Corinne
C
Laboratoire de Génétique Médicale EA 3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 67085 Strasbourg, France.
Laurier
Virginie
V
Davis
Erica E
EE
Muller
Jean
J
Rix
Suzanne
S
Badano
José L
JL
Leitch
Carmen C
CC
Salem
Nabiha
N
Chouery
Eliane
E
Corbani
Sandra
S
Jalk
Nadine
N
Vicaire
Serge
S
Sarda
Pierre
P
Hamel
Christian
C
Lacombe
Didier
D
Holder
Muriel
M
Odent
Sylvie
S
Holder
Susan
S
Brooks
Alice S
AS
Elcioglu
Nursel H
NH
Silva
Eduardo D
ED
Da Silva
Eduardo
E
Rossillion
Béatrice
B
Sigaudy
Sabine
S
de Ravel
Thomy J L
TJ
Lewis
Richard Alan
RA
Leheup
Bruno
B
Verloes
Alain
A
Amati-Bonneau
Patrizia
P
Mégarbané
André
A
Poch
Olivier
O
Bonneau
Dominique
D
Beales
Philip L
PL
Mandel
Jean-Louis
JL
Katsanis
Nicholas
N
Dollfus
Hélène
H
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