FIGURE 3.

A, immunoblot analysis of LH3 in skin fibroblasts and culture medium of the EBS patient and a control. LH3 was partially purified from cell lysates that contained equal amounts of soluble protein. The cell culture media corresponding to the lysates were also analyzed by immunoblot. Similar results were obtained in three different experiments. B, immunoelectron microscopy analysis of LH3 in control and EBS patient fibroblasts. LH3 lines the endoplasmic reticulum membranes in both cell lines. Less LH3 is observed in EBS patient fibroblasts than in control fibroblasts. Scale bar, 300 nm. C, schematic presentation of LH3 alleles and cDNA in the EBS patient. Four polymorphic nucleotides, A195G, A434G, C882T, and A1011G, were observed in the promoter and 5′-untranslated (5′UTR) region of the LH3 gene (PLOD3) (AF207096) in the EBS patient. The figure shows the possible allelic distribution of the polymorphic nucleotides. The C882T change was present as T247 and the A1011G as A376 in the LH3 cDNA of the EBS patient suggesting that only one of the LH3 alleles (allele 2) is transcribed in the EBS patient.