Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.
The sarcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-, beta-, and gamma-sarcoglycan. delta-Sarcoglycan has now been identified as a second 35-kDa sarcolemmal transmembrane glycoprotein that shares high homology with gamma-sarcoglycan and is expressed mainly in skeletal and cardiac muscle. Biochemical analysis has demonstrated that gamma- and delta-sarcoglycan are separate entities within the sarcoglycan complex and that all four sarcoglycans exist in the complex on a stoichiometrically equal basis. Immunohistochemical analysis of skeletal muscle biopsies from patients with LGMD2C, LGMD2D, and LGMD2E demonstrated a reduction of the entire sarcoglycan complex in these muscular dystrophies. Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus.
Jung
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Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA. devin-campbell@uiowa.edu
Duclos
F
F
Apostol
B
B
Straub
V
V
Lee
J C
JC
Allamand
V
V
Venzke
D P
DP
Sunada
Y
Y
Moomaw
C R
CR
Leveille
C J
CJ
Slaughter
C A
CA
Crawford
T O
TO
McPherson
J D
JD
Campbell
K P
KP
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000737:chemistry* / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry; D006801:Humans; D008562:Membrane Glycoproteins / Q000737:chemistry* / Q000235:genetics; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism; D049031:Sarcoglycans; D014018:Tissue Distribution
D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D049031:Sarcoglycans