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. Author manuscript; available in PMC: 2012 Apr 1.
Published in final edited form as: Hum Mutat. 2011 Apr;32(4):456–466. doi: 10.1002/humu.21472

Figure 1.

Figure 1

DNA sequences from two ODDD patients. (A) Genomic DNA was extracted from patient’s blood samples or skin fibroblasts. DNA sequence analysis identified the heterozygous missense mutation in the N-terminal coding region of the GJA1 gene in patient 1 where GAC (Asp, D) changed to AAC (Asn, N) (D3N). The mutation in patient 2 was found in the gene region encoding the fourth transmembrane domain of Cx43 where GTG (Val, V) changed to TTG (Leu, L)(V216L). The G60S mouse mutation is localized within the first extracellular loop domain. (B) Fibroblasts denoted as D3, D3N, V216 and V216L were double-labeled for Cx43 (red) and the resident Golgi apparatus protein GM130 (green). Overlayed images reveal that Cx43 was partially localized to the Golgi apparatus especially in cells expressing the V216L mutant. Bar=10 μm.