Fig 1: Autoimmune arthritis in proband with GATA3 mutation. a The proband clinical course from diagnosis of psoriatic JIA at time 0 to 17 months post diagnosis. Two episodes of clinical arthritis are black bars with the time of therapy initiation denoted by a downward arrow. The erythrocyte sedimentation rate (ESR) in millimeters per hour and C-reactive protein (CRP) in milligrams per liter are shown with abnormal values highlighted in red. Total white blood cells per microliter (WBC), absolute lymphocytes per microliter, and CD4+ cell values remain around the lower limits of normal. Normal lab values are denoted as shaded areas. b The functional transactivation and zinc finger domains of GATA3 aligned to GATA3 and the proband M401VfsX106. Exons are numbered. The mutant C-terminal extension is red. c Sequencing of complementary DNA in PBMCs from the proband and parent; the colors represent bases: green denotes A, red T, black G, and blue C. The arrow indicates the mutated residue. The proband has equal transcript of GATA3 and M401VfsX106 sequences. d Western blot analysis of GATA3 in PBMC from the parent, proband, and sibling showing GATA3 and M401VfsX106. Actin is a loading control
Fig 2: 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
Fig 3: Mutant GATA3 transcriptional activity. a The functional transactivation and zinc finger domains of GATA3 aligned to wild type, M401X truncation, and the HDR-causing mutants M401VfsX106, G248X, and C321S. The mutant C-terminal extension and the missense mutation in C321S are red. b Luciferase activity in HeLa cells expressing a GATA promotor-driven luciferase vector and no construct, GATA3, a M401X truncation mutant, or the HDR-causing mutants M401VfsX106, G248X truncation, and C321S. Mean and SEM are shown. A statistically significant difference from GATA3 is indicated by *P < 0.05 and **P < 0.01. c Western blot analysis of GATA3 and mutants in HeLa cells. A longer exposure is shown for the detection of the G248X mutant. d Luciferase activity in HeLa cells co-expressing GATA3 and GATA3 or the mutants. 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
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