Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda  Jennifer J. Brady, Andrew G. Roberts, Rhian R. Morgan, Sharon D. Whatley, Gareth Lloyd Rowlands, Rosemarie Watson, George H. Elder  Journal of Investigative Dermatology  Volume 115, Issue 5, Pages 868-874 (November 2000) DOI: 10.1046/j.1523-1747.2000.00148.x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Co-inheritance of homozygosity for the C282Y HFE mutation and UROD mutations accelerates the onset of PCT in families A and B. All individuals except those marked NT were tested for C282Y, H63D, and the relevant UROD mutation. Shaded symbols: overt PCT; half-shaded symbols: subclinical PCT; –, normal allele. Figures in parentheses are ages at investigation. Journal of Investigative Dermatology 2000 115, 868-874DOI: (10.1046/j.1523-1747.2000.00148.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Amino acid sequence conservation between species at and around sites of human UROD mutations. Sequences are: 1, Homo sapiens; 2, Rattus norvegicus; 3, Mus musculus; 4, Saccharomyces cerevisiae; 5, Hordeum vulgare; 6, Nicotiana tobacum; 7, Rhodobacter capsulatus; 8, Bacillus subtilis; 9, Mycobacterium leprae; 10, Caulobacter cresentus; 11, Synochoccus sp.strain PCC 7942; 12, Escherichia coli; 13, Helicobacter pylori. Journal of Investigative Dermatology 2000 115, 868-874DOI: (10.1046/j.1523-1747.2000.00148.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Homozygosity for the C282Y HFE mutation accelerates the onset of familial and sporadic PCT. Groups are: 1, familial PCT (C282Y homozygotes); 2, familial PCT (all other genotypes); 3, sporadic PCT (C282Y homozygotes); 4, sporadic PCT (all other genotypes). Horizontal bars indicate medians. Journal of Investigative Dermatology 2000 115, 868-874DOI: (10.1046/j.1523-1747.2000.00148.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions