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

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, HURİYE; Da Silva, E; Rossillion, B; Sigaudy, S; de Ravel, TJL; Lewis, RA; Leheup, B; Verloes, A; Amati-Bonneau, P; Megarbane, A; Poch, O; Bonneau, D; Beales, PL; Mandel, JL; Katsanis, N; Dollfus, H

doi:10.1038/ng1771

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

Atıf İçin Kopyala

Stoetzel C., Laurier V., Davis E., Muller J., Rix S., Badano J., ...Daha Fazla

NATURE GENETICS, cilt.38, sa.5, ss.521-524, 2006 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 5
Basım Tarihi: 2006
Doi Numarası: 10.1038/ng1771
Dergi Adı: NATURE GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.521-524
Marmara Üniversitesi Adresli: Evet

Özet

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.