Fig. 1: Compound heterozygous mutations in DNAH9 reduce protein itself expression. | Cell Death & Disease

Fig. 1: Compound heterozygous mutations in DNAH9 reduce protein itself expression.

From: Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening

Fig. 1

A Family pedigree structure of the patient. The black squares represent the proband. B Sanger sequencing identifying the compound mutations in the patient and mutation carrier parents. C Western blot analysis of the DNAH9 fragment in HEK293 cells transfected with wild type and mutant plasmids. GAPDH served as a loading control. D Multiple sequence alignment of the mutated amino acid site in DNAH9 protein in different species. Red arrows indicate the position of the variants. E The protein three-dimensional structural alteration of p.R2144Q and p.G4279S variants. The R2144 and Q2144 residues are shown in green, R2144 and its adjacent V2143/R2281residue form a hydrogen bond (yellow dotted line), respectively, whereas Q2144 form an aberrant hydrogen bond with K2263. The G4279 and S4279 residues are shown in green. G4279 do not form a hydrogen bond with other residues in wild type, whereas mutant S4279 can form a hydrogen bond with E4275.

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