Fig. 3: tRNA modification deficiency in fibroblasts derived from the patient with ELP1K815T variant relative to control. | Journal of Human Genetics

Fig. 3: tRNA modification deficiency in fibroblasts derived from the patient with ELP1K815T variant relative to control.

From: A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

Fig. 3: tRNA modification deficiency in fibroblasts derived from the patient with ELP1K815T variant relative to control.The alternative text for this image may have been generated using AI.

High-performance liquid chromatography (HPLC) coupled to mass spectrometry (MS) used to quantify the Elongator-dependent tRNA modifications (A) 5-carbamoylmethyluridine (ncm5U), (B) 5-methoxy-carbonylmethyluridine (mcm5U) and (C) 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) in human fibroblasts. HPLC-MS was used to assess Elongator-independent modifications (D) 1-methyladenosine (m1A) and (E) 7-methylguanosine (m7G) in the cells. Pseudouridine (Ψ) was used as an internal normalization standard. F RT-qPCR analysis of ELP1 relative to GAPDH expression in the patient’s and control fibroblasts. n  =  5 technical repeats per genotype. Statistical analysis: unpaired two-tailed t test (α  =  0.05) with Welch’s correction. Statistically significant differences are indicated (*p  ≤  0.05; ***p  ≤  0.001; ns, not significant). Data represent mean ± SEM

Back to article page