Fig. 3 | European Journal of Human Genetics

Fig. 3

From: Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex

Fig. 3

RBPJL Met280 variant affects protein expression. HEK293 cells were transfected with either RBPJL Thr280, Met280 or pCMV6 empty vector (EV). Forty-eight hours after the transfection, cells were harvested and divided into two equal aliquots. One aliquot was used for RNA isolation and subsequent real-time PCR. The other aliquot was used for protein extraction and western blotting. a Western blots were repeated twice and data (blots) from both experiments are shown. EV is pCMV6 empty vector used as a negative control. The blots were cropped for conciseness of the presentation. An expanded image is shown in electronic supplementary figure 4. b Relative quantification of RNA expression (real-time PCR) and protein expression (western blots) are shown as mean ± sd from the two experiments. Gene expression (mRNA) levels were normalized to the expression of RPL10. Light gray, results for RBPJL Thr280 and dark gray, results for RBPJL Met280

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