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 |
Alias (NCBI) | SDH4 (succinate dehydrogenase 4) |
HGNC (Hugo) | SDHD |
HGNC Alias symb | cybS |
HGNC Alias name | small subunit of cytochrome b |
HGNC Previous name | PGL | PGL1 |
HGNC Previous name | "succinate dehydrogenase complex, subunit D, integral membrane protein" |
LocusID (NCBI) | 6392 |
Atlas_Id | 390 |
Location | 11q23.1 [Link to chromosome band 11q23] |
Location_base_pair | Starts at 112086873 and ends at 112095794 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping SDHD.png] |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
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 ] |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ] |
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 : Fri Feb 19 17:59:56 CET 2021 |
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