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. 2016 Mar 16;14(3):e1002416. doi: 10.1371/journal.pbio.1002416

Fig 6. Potential expanded role for TZ proteins in ciliopathies and ciliogenesis: Tmem17, Tmem138, and Tmem231 are mutated in Oral-Facial-Digital type 6 (OFD6) syndrome families, and Tmem17 mutant fibroblast cells display ciliogenesis defects.

Fig 6

(A) Pedigree of OFD6-affected individuals with a recessive missense mutation in TMEM17 that affects a conserved amino acid (p.N102K). Schematic displays the position of the mutation within the TMEM17 gene (NM_198276). (B) Fluorescence images of fibroblasts reveals full-length cilia in a healthy control but significantly fewer cilia in the OFD6-affected patient. Cilia and basal bodies are detected with antibodies against acetylated tubulin (arrowheads; red) and γ-tubulin (arrow; green), respectively, and nuclei are stained with Hoechst (blue). Scale bar, 10 μm. (C) Quantitation showing a ciliogenesis defect (cilia/nuclei) in Tmem17 (p.N102K/p.N102K)-mutant fibroblast cells compared to the unaffected control. Statistical significance inferred from Student’s t test. (D, E) Family pedigrees of OFD6-affected individual with a recessive homozygous mutation in TMEM138 (p.M118L) and compound heterozygous composite mutations in TMEM231 (p.P179A/p.P219L). Schematics of TMEM138 (NM_016464.4) and TMEM231 (NM_001077416.2) gene structures, with previously identified mutations implicated in Oral-Facial-Digital type 3 (red), Joubert (blue), and Meckel (green) syndromes (bottom); new mutations are shown on top (black).