(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein

Khurana, T.S.; Engle, Elizabeth C.; Bennett, Richard Rodney; Silverman, Gary A.; Selig, Sara; Bruns, G. A. P.; Kunkel, Louis M.

doi:10.1093/hmg/3.5.841-a

Cited by 15 publications

(6 citation statements)

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“…The human alpha-dystrobrevin gene has been mapped to chromosome 18q12 (43) and spans at least 180 kb (38), while the mouse alpha-dystrobrevin gene has been mapped to the proximal end of chromosome 18 and spans 130-170 kb (39). The physical map of the alphadystrobrevin locus (exons 1-24) is consistent with that for the homologous region in dystrophin (exons 63-79) which has been estimated at 160 kb (44).…”

Section: Alpha-dystrobrevin Gene Structuresupporting

confidence: 53%

Cellular and molecular properties of alpha-dystrobrevin in skeletal muscle

Enigk

Maimone²

2001

Front Biosci

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The dystrophin glycoprotein complex (DGC) is a large multisubunit complex located throughout the sarcolemma of striated muscle fibers. This complex is critical for maintaining the structural integrity of muscle fibers during muscle contraction and also provides a scaffold for signaling molecules. Defects in some components of the DGC, such as dystrophin and sarcoglycans, disrupt the complex and lead to muscular dystrophies. Alpha-dystrobrevin is a dystrophin-related component of the DGC that is localized to the cytoplasmic side of the sarcolemma. In skeletal muscle, alpha-dystrobrevin is also highly concentrated at the neuromuscular junction, a highly specialized region of the sarcolemma responsible for receiving motor nerve signals necessary for muscle contraction. Current evidence suggests that alpha-dystrobrevin plays an important role in signaling at the sarcolemma and in the maturation and maintenance of the postsynaptic apparatus at the neuromuscular junction. In this review, we summarize the currently known cellular and molecular properties of alpha-dystrobrevin in skeletal muscle and discuss its potential functions at both the sarcolemma and neuromuscular junction.

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Section: Alpha-dystrobrevin Gene Structuresupporting

confidence: 53%

Cellular and molecular properties of alpha-dystrobrevin in skeletal muscle

Enigk

Maimone²

2001

Front Biosci

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“…There are multiple genetic linkage and candidate gene mutation analysis studies that have identified association with LVNC. These includes Xq28 (the G4.5 or TAZ gene that causes Barth syndrome) [Bleyl et al, 1997; D'Adamo et al, 1997], the ACTC gene at 15q14 [Olson et al, 1998; Monserrat et al, 2007], the MYH7 gene at 14q12 [Hoedemaekers et al, 2008; Klaassen et al, 2008], the TNNT2 gene at 1q32 [Klaassen et al, 2008], 11p15 (no gene yet confirmed) [Sasse‐Klaassen et al, 2004], and alpha dystrobrevin gene at 18q12.1‐q12.2 [Khurana et al, 1994; Ichida et al, 2001]. LVNC is also reported to occur in chromosome 1p36 deletion syndrome [Thienpont et al, 2007; Battaglia et al, 2008; Cremer et al, 2008; Saito et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Dod

Bhardwaj

Hummel

et al. 2009

American J of Med Genetics Pt A

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We report on a case of a 25-year-old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case.

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“…Dystrophin belongs to the spectrin superfamily of proteins, which includes the spectrins, the ␣-actinins, and three close relatives of dystrophin, the chromosome 6 -encoded dystrophin-related protein or utrophin (Love et al, 1989;Khurana et al, 1990;Tinsley et al, 1992), the chromosome 18 -encoded dystrobrevin (Khurana et al, 1994), and the chromosome-X encoded dystrophin-related protein 2 (Roberts et al, 1996). In muscle, dystrophin is complexed to the membrane bound dystroglycan-sarcoglycan complex, which forms a link with the extracellular matrix via laminin.…”

Section: Introductionmentioning

confidence: 99%

Activation of Utrophin Promoter by Heregulin via theets-related Transcription Factor Complex GA-binding Protein α/β

Khurana

Rosmarin

Shang

et al. 1999

MBoC

106

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Utrophin/dystrophin-related protein is the autosomal homologue of the chromosome X-encoded dystrophin protein. In adult skeletal muscle, utrophin is highly enriched at the neuromuscular junction. However, the molecular mechanisms underlying regulation of utrophin gene expression are yet to be defined. Here we demonstrate that the growth factor heregulin increases de novo utrophin transcription in muscle cell cultures. Using mutant reporter constructs of the utrophin promoter, we define the N-box region of the promoter as critical for heregulin-mediated activation. Using this region of the utrophin promoter for DNA affinity purification, immunoblots, in vitro kinase assays, electrophoretic mobility shift assays, and in vitro expression in cultured muscle cells, we demonstrate thatets-related GA-binding protein α/β transcription factors are activators of the utrophin promoter. Taken together, these results suggest that the GA-binding protein α/β complex of transcription factors binds and activates the utrophin promoter in response to heregulin-activated extracellular signal–regulated kinase in muscle cell cultures. These findings suggest methods for achieving utrophin up-regulation in Duchenne’s muscular dystrophy as well as mechanisms by which neurite-derived growth factors such as heregulin may influence the regulation of utrophin gene expression and subsequent enrichment at the neuromuscular junction of skeletal muscle.

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(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein

Cited by 15 publications

References 0 publications

Cellular and molecular properties of alpha-dystrobrevin in skeletal muscle

Cellular and molecular properties of alpha-dystrobrevin in skeletal muscle

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Activation of Utrophin Promoter by Heregulin via theets-related Transcription Factor Complex GA-binding Protein α/β

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