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Gene Section
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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