Fig. 7: Lymphoblastoid cell lines derived from patients with the homozygous DALRD3 variant exhibit deficiency in m3C modification in arginine tRNAs. | Nature Communications

Fig. 7: Lymphoblastoid cell lines derived from patients with the homozygous DALRD3 variant exhibit deficiency in m3C modification in arginine tRNAs.

From: DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Fig. 7

a Immunoblot for the indicated proteins from lysates prepared from LCLs donated from wildtype (WT) individuals and patients P1 and P2 harboring the homozygous DALRD3 mutation. Asterisks (*) represent non-specific bands on either side of the DARLD3 protein. Blot was repeated twice with similar results. b Northern blot analysis using PHA probes designed to detect m3C at position 32 and a control probe that hybridizes to a different area of the same tRNA. Blot was repeated three times with comparable results. c Primer extension analysis of the indicated tRNAs from the denoted human LCLs. (-RT) represents no reverse transcriptase; m3C 3-Methylcytidine; D dihydrouridine; t6A threonylcarbamoyladenosine. > labelled probe. Primer extension analysis of lymphoblastoid cell lines was repeated three times. d Quantification of m3C formation by primer extension for the indicated tRNAs. n = 2. Source data are provided as a Source data file.

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