FIGURE

Fig. 2

ID

ZDB-FIG-131205-9

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. 2

In vitro validation of mutation effects. (A–C) Localization of myc-tagged WT BBS4 protein (red) in IMCD3 cells shows presence at the basal body, as indicated by colocalization with γ-tubulin and acetylated α-tubulin (green). (D–F) Introduction of an artificial N165F mutation in BBS4 has no observable effect on localization. Expression of the D102G mutant, characterized as null by in vivo scoring, is undetectable 2 d after transfection (G–I), whereas the hypomorphic N165H variant is expressed but mislocalized (J–L). The dominant-negative mutation L327P results in mislocalization in postmitotic cells (M–O) but not in dividing cells (P–R). (S) Expression of MYC-tagged constructs 4 d after transfection is undetectable for null mutations (D102G, N274H, and N165H), although RT-PCR showed message in each case.

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