Fig. S8

Many disease-causing missense mutations found in BBS6, BBS10, and BBS12 disrupt interactions among these proteins. (A) Missense mutation constructs used for interaction study. Missense mutations found in BBS6, BBS10, and BBS12 genes in human BBS patients were depicted (17, 24, 25). Equatorial domains are in blue, intermediate domain, in red, and apical domain, in green. Yellow boxes represent insertions, which are not present in CCT family chaperonins. Numbers represent amino acid residues. (B) Interactions of BBS6 missense mutants with BBS2 and BBS12. HEK293T cells were transfected with Myc-BBS2 or Myc-BBS12 together with HA-BBS6 variants and lysates were subject to coimmunoprecipitation (IP) and immunoblotting (IB). Numbers at the bottom represent the ratio of coprecipitated proteins compared with wild-type protein after normalization with the input. (C) Interactions of BBS10 missense mutants with BBS7, BBS9, and BBS12. (D) Interactions of BBS12 missense mutants with BBS6, BBS7, BBS9, and BBS10. Others are same as in B. Note that data presented in Fig. 5 are also shown here for comparisons with other BBS proteins.