Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma Dewi Astuti,

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma Dewi Astuti, Farida Latif, Ashraf Dallol, Patricia L.M. Dahia, Fiona Douglas, Emad George, Filip Sköldberg, Eystein S. Husebye, Charis Eng, Eamonn R. Maher The American Journal of Human Genetics Volume 69, Issue 1, Pages 49-54 (July 2001) DOI: 10.1086/321282 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Electropherograms, showing germline SDHB mutations (arrowheads), and simplified pedigrees for families K1–K3 (A) and family K4 (B). The affected codon and the amino acids are depicted below the electropherograms. In pedigrees, symbols with horizontal bars indicate pheochromocytoma (intra- or extra-adrenal), symbols with vertical bars indicate cervical paraganglioma, and symbols with checkered pattern indicate both pheochromocytoma and paraganglioma. The American Journal of Human Genetics 2001 69, 49-54DOI: (10.1086/321282) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Locations of germline mutations and missense substitution, detected in the highly conserved SDHB coding sequence (HS = Homo sapiens; DM = Drosophila melanogaster). Multiple-sequence alignment was performed by the ClustalW program, available from BCM Search Launcher. The mutations are shown with respect to the functional domains of the protein, as predicted by the InterPro program. The black dots represent the four germline mutations described in the text. The yellow screen indicates the predicted ferredoxin domain (54–119 amino acids; GenBank accession number NP_002991), the green screen indicates the 2Fe-2S ferredoxin domain (93–101 amino acids), and the blue screen indicates the 4Fe-4S ferredoxin iron-sulfur–binding domain (186–197 amino acids). The American Journal of Human Genetics 2001 69, 49-54DOI: (10.1086/321282) Copyright © 2001 The American Society of Human Genetics Terms and Conditions