Atlas of Genetics and Cytogenetics in Oncology and Haematology
SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP)
| Identity |
| Other names | SDH1 (succinate dehydrogenase 1) |
| HGNC (Hugo) | SDHB |
| LocusID (NCBI) | 6390 |
| Location | 1p36.13 |
| Location_base_pair | Starts at 17345225 and ends at 17380665 bp from pter ( according to hg19-Feb_2009) [Mapping] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| DNA/RNA |
| Description | 1123 bp, 8 exons |
| Protein |
| Description | 280 amino acids and 31 kDa |
| Expression | widely expressed |
| Localisation | mitochondrial inner membrane |
| Function | The complex II (succinate-ubiquinone oxidoreductase) is un 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. |
| Homology | The complex II includes SDHD (cybS) and SDHC (cybL) which are also implicated in paragangliomas and pheochromocytomas. |
| Mutations |
| Germinal | 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 1bp 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. |
| Somatic | Loss of wild type allele in tumor DNA is usually observed. |
| Implicated in |
| Entity | Hereditary paraganglioma type 4 |
| 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. |
| External links |
| Bibliography |
| RASSF1A is part of a complex similar to the Drosophila Hippo/Salvador/Lats tumor-suppressor network. |
| Guo C, Tommasi S, Liu L, Yee JK, Dammann R, Pfeifer GP |
| Current biology : CB. 2007 ; 17 (8) : 700-705. |
| PMID 17379520 |
| The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1. |
| Leckschat S, Ream-Robinson D, Scheffler IE |
| Somatic cell and molecular genetics. 1993 ; 19 (5) : 505-511. |
| PMID 8291026 |
| Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. |
| Au HC, Ream-Robinson D, Bellew LA, Broomfield PL, Saghbini M, Scheffler IE |
| Gene. 1995 ; 159 (2) : 249-253. |
| PMID 7622059 |
| Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. |
| Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skˆldberg F, Husebye ES, Eng C, Maher ER |
| American journal of human genetics. 2001 ; 69 (1) : 49-54. |
| PMID 11404820 |
| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. |
| 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 |
| Journal of medical genetics. 2002 ; 39 (3) : 178-183. |
| PMID 11897817 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-2002 | Anne-Paule Gimenez-Roqueplo |
| Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France |
| Citation |
| This paper 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. April 2002 . |
| URL : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html |
The various updated versions of this paper are referenced and archived by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37869/1/04-2002-SDHBID388.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Apr 18 17:17:33 CEST 2014 |
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