Fig. 3
From: Juvenile idiopathic arthritis associated with a mutation in GATA3
Two pediatric HDR patients with autoimmune disease have similar mutant GATA3. The proband (c.1201_1202delAT, p.M401VfsX106) and HDR patient with type I diabetes (c.1200_1201delCA, p.H400HfsX107) are compared. a Sanger sequencing results from plasmids containing the mutant constructs, M401VfsX106 and H400HfsX107, are shown aligned to the GATA3 sequence. Both mutations are a 2 nucleotide deletion. The amino acid translation from the selected sequence is shown. b Western blot analysis of GATA3, M401VfsX106, and H400HfsX107 in HeLa cells. c Luciferase activity in HeLa cells expressing a GATA promotor-driven luciferase vector and GATA3, M401VfsX106, and H400HfsX107. Mean and SEM are shown. A statistically significant difference from GATA3 is indicated by *P < 0.05 and **P < 0.01. d Luciferase activity in HeLa cells co-expressing GATA3 and GATA3, M401VfsX106, or H400HfsX107. Mean and SEM are shown. A statistically significant difference from GATA3 on the GATA3 background is indicated by *P < 0.05 and **P < 0.01