Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene

J Biol Chem. 1992 May 25;267(15):10823-30.

Abstract

The muscle-specific promoter of the dystrophin gene is active in skeletal, cardiac, and smooth muscles and is specifically stimulated during differentiation of myoblasts into multinucleated myotubes. An 850-base pair (bp) DNA fragment upstream from the cap site is able to confer a partial muscle specificity to a reporter gene. The region between -850 and -140 bp includes nonspecific negative and positive regulatory sequences. A continuous stretch of 140 bp upstream from the cap site exhibits a striking conservation between rodents and human (93% homology) and still retains muscle preference of expression. It contains two putative binding sites for factors involved in regulation of other muscle-specific genes, a CCArGG box and an E box. This latter element, however, is unable to confer the ability to be transactivated by MyoD1 to the dystrophin promoter. The -140-bp promoter fragment exhibits antagonist effects contributed by one inhibiting sequence (nucleotide -140/-96), active in all cell types, and one activating region, from nucleotide -96 to the cap site, sufficient to confer a muscle preference of expression, in which the CCArGG box seems to play a major role.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Southern
  • Chromosome Deletion
  • DNA / genetics
  • Dystrophin / genetics*
  • Gene Expression Regulation*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Muscle Proteins / metabolism
  • Muscles / metabolism*
  • MyoD Protein
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Plasmids
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Rats
  • Regulatory Sequences, Nucleic Acid*
  • Transcriptional Activation
  • Transfection

Substances

  • Dystrophin
  • Muscle Proteins
  • MyoD Protein
  • Nuclear Proteins
  • DNA

Associated data

  • GENBANK/L01141
  • GENBANK/M86232
  • GENBANK/M86233
  • GENBANK/M86711
  • GENBANK/M87859
  • GENBANK/M87860
  • GENBANK/S96735
  • GENBANK/S96741
  • GENBANK/S96751
  • GENBANK/S96754