| Written | 2002-02 | Anne-Paule Gimenez-Roqueplo |
| Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France |
| Identity |
| Other names | SDH4 (succinate dehydrogenase 4) |
| HGNC (Hugo) | SDHD |
| LocusID (NCBI) | 6392 |
| Atlas_Id | 390 |
| Location | 11q23.1 [Link to chromosome band 11q23] |
| Location_base_pair | Starts at 111957548 and ends at 111966525 bp from pter ( according to hg19-Feb_2009) [Mapping SDHD.png] |
| Fusion genes (updated 2016) | SDHD (11q23.1) / DLAT (11q23.1) | SDHD (11q23.1) / XIRP2 (2q24.3) |
| DNA/RNA |
| Description | 8895 bp, 4 exons |
| Transcription | A non transcribed sequence highly homologous to SDHD cDNA is present on chromosome 1p36-p34 |
| Protein |
| Description | 159 amino acids and 17 kDa |
| Expression | widely expressed |
| Localisation | mitochondrial inner membrane |
| Function | Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit D protein or small subunit (cybS) is one of two integral membrane proteins anchoring the complex to membrane. |
| Homology | The complex II includes SDHC (cybL) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas. |
| Mutations |
| Germinal | Germline mutations cause hereditary paraganglioma. Different types of mutations are described. False-sense mutations, insertions and deletions leading to protein truncation and missense mutations. |
| Somatic | Loss of wild type allele in tumor DNA is usually observed. |
| Implicated in |
| Note | |
| Entity | Hereditary paraganglioma type 1 (also called familial non chromaffin paragangliomas 1, or familial glomus tumor) |
| Disease | Hereditary paraganglioma type 1 (PGL1) is a rare autosomal dominant disorder. The disease is transmitted through fathers and no disease phenotype is transmetted maternally in accordance with a maternal genomic imprinting. Paragangliomas are slow growing highly vascular tumor, usually benign, 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 pheochromocytomas. |
| Prognosis | It depends on extent of the disease at the time of diagnosis. |
| Bibliography |
| Germline SDHD mutation in familial phaeochromocytoma. |
| Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER |
| Lancet. 2001 ; 357 (9263) : 1181-1182. |
| PMID 11323050 |
| Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. |
| Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B |
| Science (New York, N.Y.). 2000 ; 287 (5454) : 848-851. |
| PMID 10657297 |
| A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region. |
| Baysal BE, Willett-Brozick JE, Taschner PE, Dauwerse JG, Devilee P, Devlin B |
| European journal of human genetics : EJHG. 2001 ; 9 (2) : 121-129. |
| PMID 11313745 |
| The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. |
| Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X |
| American journal of human genetics. 2001 ; 69 (6) : 1186-1197. |
| PMID 11605159 |
| Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. |
| Gimm O, Armanios M, Dziema H, Neumann HP, Eng C |
| Cancer research. 2000 ; 60 (24) : 6822-6825. |
| PMID 11156372 |
| Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. |
| Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K |
| Biochimica et biophysica acta. 1999 ; 1412 (3) : 295-300. |
| PMID 10482792 |
| Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. |
| Milunsky JM, Maher TA, Michels VV, Milunsky A |
| American journal of medical genetics. 2001 ; 100 (4) : 311-314. |
| PMID 11343322 |
| Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. |
| Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Bröcker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P |
| Genes, chromosomes & cancer. 2001 ; 31 (3) : 274-281. |
| PMID 11391798 |
| Citation |
| This paper should be referenced as such : |
| Gimenez-Roqueplo, AP |
| SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein) |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):115-116. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/SDHDID390.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
|
Neuro-Endocrine/Endocrine System: Carcinoid tumors
Head and Neck: Paraganglioma: an overview Neuro-Endocrine/Endocrine System: Phaeochromocytoma |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ] |
| Cowden disease Familial nervous system tumour syndromes Hereditary paraganglioma (PGL) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 19 19:29:08 CEST 2016 |
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