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Fig. 4 | BMC Endocrine Disorders

Fig. 4

From: A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

Fig. 4

Functional analysis of wild-type and mutant GATA3 proteins using a　luciferase reporter assay system. a, Effects of the overexpression of wild-type and mutant GATA3 on the transcription activity of the heterologous promoter. Mutant GATA3 overexpression abolished the enhancing effects of wild-type GATA3 on the promoter containing the consensus GATA responsive element (pGATA/Luc). b, Effects of the overexpression of wild-type and mutant GATA3 on human PTH gene expression. Wild-type GATA3 overexpression significantly enhanced the transcription activity of human PTH (phPTH/Luc), whereas this stimulatory effect was not observed with mutant GATA3 overexpression. Data are expressed as folds increase over control group. P < 0.05 vs. corresponding control

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BMC Endocrine Disorders

ISSN: 1472-6823

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