FIGURE

Fig. S6

ID

ZDB-FIG-140811-30

Publication

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

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Proc. Natl. Acad. Sci. USA