FIGURE
Fig. S6
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- ZDB-FIG-140811-30
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- Zaghloul et al., 2010 - Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
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Fig. S6
In vitro assessment of mutation effects. Localization of MYC-tagged WT BBS proteins (red) and GFP (green) in IMCD3 cells reveal that most WT proteins localize to the cytoplasm (BBS1, BBS2, BBS3, BBS6, and BBS7). Null mutations show reduced expression (BBS6 T57A; I), while dominant negative mutations seem to drive protein localization to cellular structures not seen in WT expression, such as BBS2 N70S (D) or BBS7 T211I and BBS7 H323R expression in the nucleus (M-N). (O) Expression of RNA from each transfected construct was verified by RT-PCR analysis. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ Proc. Natl. Acad. Sci. USA