Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene.

Klamut, Henry J.; Gangopadhyay, S B; Worton, R G; Ray, P. N.

doi:10.1128/mcb.10.1.193

Cited by 132 publications

(73 citation statements)

References 71 publications

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“…These sequences include a promoter (Klamut et al, 1990) and an intronic enhancer (Klamut et al, 1996(Klamut et al, , 1997. Although the promoter appears to direct transcription in both skeletal and cardiac muscle-derived cell lines, the enhancer appears to be more specific to cardiac cell lines (Klamut et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

“…Because the role of dystrophin has been defined mostly in skeletal muscle cells, many of the transcriptional studies have focused on the muscle promoter and other regulatory regions that target dystrophin expression in muscle. Initial studies have shown that the first 150 bp of the muscle promoter are required for muscle-specific expression of dystrophin in cultured myogenic cells (Klamut et al, 1990). Subsequent studies have demonstrated that expression of the human dystrophin gene may be positively regulated by two factors, i.e., the serum response factor (SRF) and the dystrophin promoter bending factor (DPBF), that bind sequences in the Ϫ90 region, and negatively regulated in myoblasts by the transcription factor YY1 that binds a sequence that overlaps the DPBF binding site (Galvagni et al, 1997(Galvagni et al, , 1998.…”

Section: Introductionmentioning

confidence: 99%

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Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

Marshall¹,

Chartrand²,

Repentigny³

et al. 2002

Developmental Dynamics

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Duchenne muscular dystrophy is a muscle wasting disease that results from a dystrophin deficiency in skeletal and cardiac muscle. Studies concerning the regulatory elements that govern dystrophin gene expression in skeletal and/or cardiac muscle in both mouse and human have identified a promoter and an enhancer located in intron 1. In transgenic mice, the muscle promoter alone targets the expression of a lacZ reporter gene only to the right ventricle of the heart, suggesting the need for other regulatory elements to target skeletal muscle and the rest of the heart. Here we report that the mouse dystrophin enhancer from intron 1 can target the expression of a lacZ reporter gene in skeletal muscle as well as in other heart compartments of transgenic mice. Our results also suggest that sequences surrounding the mouse dystrophin enhancer may affect its function throughout mouse development.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

Marshall¹,

Chartrand²,

Repentigny³

et al. 2002

Developmental Dynamics

View full text Add to dashboard Cite

show abstract

“…Klamut et al [3] demonstrated a deficiency in the production of dystrophin mRNA in C2 cultures compared with that produced by primary myotube cultures. By Western blot analysis and scanning densitometry of autoradiographs we have established that myotube cultures of the C2 cell line do produce full-length dystrophin, but at levels which are IO-fold lower than primary mouse and human cultures.…”

Section: Discussionmentioning

confidence: 99%

“…An interesting observation made by Klamut et al [3] was a deficiency in the expression of dystrophin mRNA, in myotube cultures of the murine myoblast cell line, C2, in comparison to cultures of primary myoblasts. The dystrophin promoter-reporter gene constructs, while being highly expressed in primary myotube cultures, were only very weakly active in C2 cultures.…”

Section: Introductionmentioning

confidence: 99%

“…A region 850 bp upstream of the cap site of the gene was initially shown to be capable of regulating musclespecific transcription of a reporter gene in cell culture [3]. In particular a 96 bp sequence containing conserved CArG-box and E-box motifs was found to be sufficient to confer partial muscle specificity, but other potential positive and negative regulatory elements were detected upstream [4].…”

Section: Introductionmentioning

confidence: 99%

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Trans‐activation of the murine dystrophin gene in human‐mouse hybrid myotubes

et al. 1993

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Myotube cultures of the myogenic cell hne, C2, produce significantly lower levels of dystrophin than primary mouse cultures. We demonstrate that expression of the C2 dystrophin gene increases IO-fold in hybrid myotubes formed by fusion of C2 and dystrophin-deficient human myoblasts from a Duchenne muscular dystrophy patient. These results indicate that C2 cells are deficient in endogenous gene regulatory factors which enhance dystrophin expression, and that the C2 cell line may therefore be used to identify putative trans-acting factors involved in the regulation of dystrophin gene expression.

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X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

et al. 1996

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We reevaluated a family previously described as having nonspecific X‐linked mental retardation (XLMR) by Snyder and Robinson [1969: Clin Pediatr 8:669–674] (MIM 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild‐to‐moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft palate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3′ end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome. © 1996 Wiley‐Liss, Inc.

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Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene.

Cited by 132 publications

References 71 publications

Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

Trans‐activation of the murine dystrophin gene in human‐mouse hybrid myotubes

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

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