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Fig. 2 | BMC Endocrine Disorders

Fig. 2

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

Fig. 2

Direct sequencing of GATA3. Upper panel shows the genomic structure of GATA3, consisting of 6 exons (indicated by boxes). The black and white boxes denote the coding regions and the untranslated regions, respectively. GATA3 encodes a protein with 2 transactivating domains (TA1 and TA2) and 2 zinc finger domains (N-terminal zinc finger [ZnF1] and C-terminal zinc finger [ZnF2]). ZnF1 is encoded by exon 4 and ZnF2 is encoded by exon 5. The arrow indicates the mutation site. The lower panel shows the nucleotide sequences around codon 299 in exon 4 of GATA3

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BMC Endocrine Disorders

ISSN: 1472-6823

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