Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

Participantes ajenos a IIS La Fe

• Billingsley G
• Bin J
• Fieggen KJ
• Duncan JL
• Gerth C
• Ogata K
• Wodak SS
• Traboulsi EI
• Fishman GA
• Paterson A
• Chitayat D
• Knueppel T
• Mitchell GA
• Deveault C
• Héon E

Abstract

Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. These may play a role in the regulation of BBSome assembly.