Alternative Promoters: Duchenne Muscular Dystrophy (DMD) Gene


The Duchenne muscular dystrophy gene is the largest and one of the most complex genes known to date. Four 5′ promoters regulate, in a cell‐type‐specific manner, the expression of full‐length gene product, the protein called dystrophin. In addition, four internal promoters regulate the expression of smaller proteins which lack important parts of dystrophin, and probably have different functions.

Keywords: DMD; dystrophin; alternative promoters; evolution; gene regulation

Figure 1.

Schematic presentation of the DMD gene, its promoters and its products (not to scale). In the upper part, the transcription start site of each product is indicated by a bent arrow. L, B, M and P show the positions of lymphoblastoid cell, brain, muscle and Purkinje cell promoters respectively. Each product has a unique first exon. The 5′ unique exons are spliced to the common exon 2 (the first exon of the L mRNA can also be spliced to exon 3). Each of the internal unique first exons is spliced to the next downstream dystrophin exon. The lower part of the figure shows the domain structure of dystrophin and of the smaller products of the gene.



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Further Reading

Ahn AH and Kunkel LM (1993) The structural and functional diversity of dystrophin. Nature Genetics 3: 283–291.

Ayoubi TA and Van De Ven WJ (1996) Regulation of gene expression by alternative promoters. FASEB Journal 10: 453–460.

Barnea E, Zuk D, Simantov R, Nudel U and Yaffe D (1990) Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron 5: 881–888.

Boyce FM, Beggs AH, Feener C and Kunkel LM (1991) Dystrophin is transcribed in brain from a distant upstream promoter. Proceedings of the National Academy of Sciences of the United States of America 88: 1276–1280.

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Gilgenkrantz H, Hugnot JP, Lambert M, et al. (1992) Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type specific expression of the human muscle dystrophin gene. Journal of Biological Chemistry 267: 10823–10830.

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Ozawa E, Yoshida M, Suzuki A, et al. (1995) Dystrophin‐associated proteins in muscular dystrophy. Human Molecular Genetics 4: 1711–1716.

Sarig R, Mezger‐Lallemand V, Gitelman I, et al. (1999) Targeted inactivation of Dp71, the major non‐muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Human Molecular Genetics 8: 1–10.

Schibler U and Sierra F (1987) Alternative promoters in developmental gene expression. Annual Review of Genetics 21: 237–257.

Yaffe D, Nudel U, Greenberg D, Lederfein D and Rapaport D (1996) The DMD gene: search for function of its nonmuscle products. Cellular Pharmacology 3: 331–336.

Web Links

Dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD); Locus ID: 1756. LocusLink:

Dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD); MIM number: 300377. OMIM:‐post/Omim/dispmim?300377

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How to Cite close
Nudel, Uri(Sep 2005) Alternative Promoters: Duchenne Muscular Dystrophy (DMD) Gene. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005026]