Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta
Fig 2
The TMEM38B mutations result in null alleles.
(A) Real-time RT-PCR analysis of TMEM38B transcripts from control (C) and proband (P1, P2 and P3) fibroblasts and osteoblasts. Rescue of transcripts by treatment of cells with emetine (+) indicates inhibition of nonsense-mediated decay due to the presence of premature termination codons (PTCs). **, p < 0.01. (B) RT-PCR analysis of TMEM38B mRNA from control (C) and P1 (OI) fibroblasts in the absence or presence emetine. Several unique amplification products were observed for P1 samples, including multiple splice variants and heteroduplexes (HD), as detailed in S1 Fig. (C) Western analysis of control (C) and proband (P1, P2 and P3) fibroblast and osteoblast lysates indicates absence of TRIC-B protein in proband cells.