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Figure 3 | BMC Medical Genetics

Figure 3

From: Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

Figure 3

MARS mutations F370L and I523T significantly impair MARS activity. A: F370L and I523T MARS are expressed in HEK293 cells. Western blots show that wild-type and the mutant forms of MARS were expressed at similar levels (upper panel) with equal amounts of protein loaded, as reflected by the equal levels of actin (lower panel). Endogenous MARS in mock treated cells was only detected after prolonged exposure (see Additional file 2: Figure S1). B: Measurement of MARS activity, using the aminoacylation assay, shows greatly reduced activity of both MARS mutants. The activities of F370L and I523T MARS are represented as the percentages of wild-type MARS activity (set to 100%). The values are the averages of 3 independent experiments, ± the standard deviations.

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BMC Medical Genetics

ISSN: 1471-2350

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