Fig. 3.
In vivo expression of TXNDC3fl and TXNDC3d7 isoforms. (A) Expression of the TXNDC3fl and TXNDC3d7 isoforms by means of conventional RT-PCR using primers F1 and R1 located in exons 6 and 8, respectively. RT-PCR amplifications were performed on RNAs extracted from human testis, trachea, and nasal cells, and from lymphoblastoid cell lines established for all members of family D50 (D50F, D50M, D50X1, D50S1, and D50S2), for patient D65X1 with a c.271–27C/T genotype, and for 15 controls, C1 to C15, with C1 to C14 having a c.271–27C/C genotype and C15 having a c.271–27C/T genotype. One representative experiment of three independent experiments is shown. L, 1-kb+ ladder; Neg, reaction without RNA. (B) Relative expression of TXNDC3fl and TXNDC3d7 transcripts generated by conventional PCR. The amounts of TXNDC3fl and TXNDC3d7 transcripts, calculated by the GeneTools program, are represented with black and gray bars, respectively. The sum of the two isoforms was arbitrarily set to 1. (Left) The results for individuals who carry the c.271–27C/C genotype, i.e., the patient's mother (D50M) and brother (D50S2) and controls (C1 to C14). (Right) The results for the five individuals bearing the c.271–27C>T variant, i.e., patient D50X1, her father (D50F), her brother (D50S1), patient D65X1, and control C15. Results are represented as means ± SEM of three independent experiments.