Download Gene Section SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)

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Gene Section
Short Communication
SDHD (succinate dehydrogenase complex II,
subunit D, integral membrane protein)
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: February 2002
Online updated version: http://AtlasGeneticsOncology.org/Genes/SDHDID390.html
DOI: 10.4267/2042/37841
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
Homology
Identity
The complex II includes SDHC (cybL) and SDHB
(iron-sulfur protein) which are also implicated in
paragangliomas and pheochromocytomas.
Other names: SDH4 (succinate dehydrogenase 4)
HGNC (Hugo): SDHD
Location: 11q23
Mutations
DNA/RNA
Germinal
Description
Germline mutations cause hereditary paraganglioma.
Different types of mutations are described. False-sense
mutations, insertions and deletions leading to protein
truncation and missense mutations.
8895 bp, 4 exons.
Transcription
A non transcribed sequence highly homologous to
SDHD cDNA is present on chromosome 1p36-p34.
Somatic
Protein
Loss of wild type allele in tumor DNA is usually
observed.
Description
Implicated in
159 amino acids and 17 kDa.
Hereditary paraganglioma type 1
Expression
(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).
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.
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(2)
112
SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)
Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER,
Evans DG, Eng C, Latif F, Maher ER. Germline SDHD
mutation in familial phaeochromocytoma. Lancet. 2001 Apr
14;357(9263):1181-2
They may be associated with pheochromocytomas.
Prognosis
It depends on extent of the disease at the time of
diagnosis.
Baysal BE, Willett-Brozick JE, Taschner PE, Dauwerse JG,
Devilee P, Devlin B. 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 tumoursuppressor region. Eur J Hum Genet. 2001 Feb;9(2):121-9
References
Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K.
Cytochrome b in human complex II (succinate-ubiquinone
oxidoreductase): cDNA cloning of the components in liver
mitochondria and chromosome assignment of the genes for
the large (SDHC) and small (SDHD) subunits to 1q21 and
11q23. Cytogenet Cell Genet. 1997;79(1-2):132-8
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin
PF, Corvol P, Rötig A, Jeunemaitre X. 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. Am J Hum Genet.
2001 Dec;69(6):1186-97
Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E,
Kita K. Characterization of the human SDHD gene encoding
the small subunit of cytochrome b (cybS) in mitochondrial
succinate-ubiquinone oxidoreductase. Biochim Biophys Acta.
1999 Aug 4;1412(3):295-300
Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel
mutations and the emergence of a common mutation in the
SDHD gene causing familial paraganglioma. Am J Med Genet.
2001 May 15;100(4):311-4
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. Mutations in SDHD, a mitochondrial
complex II gene, in hereditary paraganglioma. Science. 2000
Feb 4;287(5454):848-51
Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH,
Bröcker-Vriends AH, van Der Mey AG, van Ommen GJ,
Cornelisse CJ, Devilee P. Nearly all hereditary paragangliomas
in the Netherlands are caused by two founder mutations in the
SDHD gene. Genes
Chromosomes
Cancer. 2001
Jul;31(3):274-81
Gimm O, Armanios M, Dziema H, Neumann HP, Eng C.
Somatic and occult germ-line mutations in SDHD, a
mitochondrial
complex
II
gene,
in
nonfamilial
pheochromocytoma. Cancer Res. 2000 Dec 15;60(24):6822-5
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(2)
Gimenez-Roqueplo AP
This article 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):112-113.
113