PMC7267021_01
A homozygous missense mutation in exon 17 of the TYK2 gene in our patient.
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F1
Sequence analysis demonstrated the homozygous missense mutation in the exon 17 of the TYK2 gene of the patient, which was heterozygous in his parents (Figure 1).
The expression of TYK2 in these family members. (A) The qRT-PCR results of the patient and health control. (B) Western blot analysis results of Tyk2 protein in patient and health control.
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F2
TYK2 in patient-derived cells with the forward primer (5'-3' CAGATCAGACAGCACAGGGG) and the reverse primer (5'-3' GCAGTCCTTGAAGCTGGTCT). The results showed that this mutation leads to a decrease of TYK2 mRNA expression (Figure 2A). TYK2 protein expression found in the patient (Figure 2B).
Expression of TYK2 in wild type and c.2395G>A mutant HEK293T cell line. (A) The sanger analysis results of wild type and c.2395G>A mutant HEK293T cell; (B) mRNA expression of FLAG-TYK2 and TYK2-GFP in both wild type and c.2395G>A mutant HEK293T cell; (C) Western blot analysis results of FLAG-TYK2 and TYK2-GFP in both wild type and c.2395G>A mutant HEK293T cell.
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F3
We investigated c.2395G>A (p.G799R) mutant introduced into the HEK293T cell line (Figure 3A). TYK2-GFP (Figure 3B). To go along with this, this mutant also decreased the expressed protein of FLAG-TYK2 and TYK2-GFP in the western blot analysis (Figure 3C).