Figure 1. Identification of TYK2 mutations and TYK2
deficiency.
(A) Pedigrees of the TYK2-deficient families. Square and circle
represent male and female respectively. The probands (P1, P2, P3, P4 and
P5) in the five families are indicated by an arrow. (B) and (C)
Schematic diagram of TYK2 gene and its 23 coding exons (B), TYK2 protein
and its different domains (Ferm, SH2, Pseudokinase and Kinase) (C). The
positions of the TYK2 mutations of the five patients are
indicated by black arrows or vertical line.
(D) Confirmation by Sanger sequencing of the TYK2 gene in the
patients and their parents.
(E-H) Western blot analysis of TYK2 expression in P1, P2, P3 and P5.
Representative images from 2-3 independent experiments.
(I-L) qRT-PCR analysis of TYK2 transcription in P1, P2 and P3.
Data are derived from 2-3 independent experiments.