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. 2015 Apr 13;209(1):129–142. doi: 10.1083/jcb.201411087

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© 2015 Roberson et al.

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Figure 6. — TMEM231 mutations are associated with OFD3 and MKS. (A) Schematic of the TMEM231 locus and mutations identified in OFD3- and MKS-affected individuals. Mutation locations are indicated with asterisks and mutation names correspond to GenBank accession no. NM_001077418. Blue boxes, exons; white boxes, untranslated regions; gray lines, introns; black numbers exons. (B) Arl13b localization in Tmem231^−/− MEFs is rescued by transient transfection of wild-type Flag-tagged Tmem231. The mutant forms of Tmem231 associated with OFD3 and MKS partially restore Arl13b localization to cilia. Bars, 2.5 µm. (C) Quantitation of the normalized fluorescence intensity of Arl13b at wild-type and Tmem231^−/− cilia (at least 10 cilia per condition) transfected with the indicated expression constructs. The data shown are from a single representative experiment out of three repeats. (D) Coimmunoprecipitation of FLAG-tagged Tmem231 constructs and V5-tagged B9d1. Despite two mutant forms of Tmem231 being expressed at lower levels (lanes 3–7, second blot), all four mutant proteins were able to immunoprecipitate B9d1 (third blot, third through seventh lanes). The data are shown are from a single representative experiment out of two repeats. (E) Transfection of wild-type Flag-tagged Tmem231 restores B9d1 localization to Tmem231^−/− MEFs. Ciliopathy-associated point mutations restore B9d1 localization to a lesser extent. Arrowheads show the TZ. Bars, 2.5 µm. (F) Quantitation of the normalized fluorescence intensity of B9d1 at wild-type and Tmem231^−/− cilia (at least 10 cilia per condition) transfected with the indicated expression constructs. The data shown are from a single representative experiment from two repeats. Error bars represent the 95% confidence interval. *, P < 0.05, as measured by Student’s t test with Welch’s correction.