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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review SDHB (succinate dehydrogenase subunit B, iron-sulfur protein or IP) complex II, Anne-Paule Gimenez-Roqueplo Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France (APGR) Published in Atlas Database: April 2002 Online updated version : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html DOI: 10.4267/2042/37869 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2002 Atlas of Genetics and Cytogenetics in Oncology and Haematology Function Identity The complex II (succinate-ubiquinone oxidoreductase) is a key component of the mitochondrial respiratory chain and the tricarboxylic acid cycle. It is involved in the oxidation of succinate (succinate + ubiquinone = fumarate + ubiquinol) and carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit B protein or iron-sulfur protein, which binds three different iron-sulfur clusters, is directly involved in the catalytic activity of succinate dehydrogenase. Other names: SDH1 (succinate dehydrogenase 1) HGNC (Hugo): SDHB Location: 1p36.1-p35 Homology The complex II includes SDHD (cybS) and SDHC (cybL) which are also implicated in paragangliomas and pheochromocytomas. Mutations Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Germinal DNA/RNA Widely expressed. Germline mutations cause hereditary paraganglioma, non-familial paraganglioma, familial and sporadic pheochromocytomas. Different germline mutations have been reported: i) a nonsense mutation (R90X) in a family with cervical paraganglioma and ectopic pheochromocytoma, ii) a missense mutation (P197R) in a family with extraadrenal pheochromocytoma and a 1 bp deletion in a sporadic pheochromocytoma, iii) a missense (P131R) mutation and 1 bp insertion (M71fsX80) in familial paraganglioma and a nonsense mutation (Q59X) in sporadic paraganglioma. Localisation Somatic Mitochondrial inner membrane. Loss of wild type allele in tumor DNA is usually observed. Description 1123 bp, 8 exons. Protein Description 280 amino acids and 31 kDa. Expression Atlas Genet Cytogenet Oncol Haematol. 2002; 6(3) 199 SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP) Gimenez-Roqueplo AP Implicated in to human chromosome 1p35-36.1. Somat Cell Mol Genet. 1993 Sep;19(5):505-11 Hereditary paraganglioma type 4 Au HC, Ream-Robinson D, Bellew LA, Broomfield PL, Saghbini M, Scheffler IE. Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. Gene. 1995 Jul 4;159(2):249-53 Note Alias: familial non chromaffin paragangliomas 4; familial glomus tumor; familial and sporadic pheochromocytoma. Disease Hereditary paraganglioma type 4 (PGL4) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benigns, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum). They may be associated with adrenal or extraadrenal pheochromocytomas which produce catecholamines. Prognosis It depends on extent of the disease at the time of diagnosis. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet. 2001 Jul;69(1):49-54 Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet. 2002 Mar;39(3):178-83 Guo C, Tommasi S, Liu L, Yee JK, Dammann R, Pfeifer GP. RASSF1A is part of a complex similar to the Drosophila Hippo/Salvador/Lats tumor-suppressor network. Curr Biol. 2007 Apr 17;17(8):700-5 This article should be referenced as such: Gimenez-Roqueplo AP. SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP). Atlas Genet Cytogenet Oncol Haematol. 2002; 6(3):199-200. References Leckschat S, Ream-Robinson D, Scheffler IE. The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps Atlas Genet Cytogenet Oncol Haematol. 2002; 6(3) 200