Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

J Chelly; H Gilgenkrantz; J P Hugnot; G Hamard; M Lambert; D Récan; S Akli; M Cometto; A Kahn; J C Kaplan

doi:10.1172/JCI115417

Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Unité 129, Institut National de la Santé et de la Recherche Médicale, Institut Cochin de Génétique Moléculaire, Paris, France.

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Published in Volume 88, Issue 4 on October 1, 1991
J Clin Invest. 1991;88(4):1161–1166. https://doi.org/10.1172/JCI115417.
© 1991 The American Society for Clinical Investigation

Published October 1, 1991 - Version history

We have previously demonstrated that there is a low level of transcription of tissue-specific genes in every cell type. In this study, we have taken advantage of this phenomenon, called illegitimate transcription, to analyze the muscle-type dystrophin mRNA in easily accessible cells such as lymphoid cells, fibroblasts, and peripheral blood cells from Duchenne and Becker muscular dystrophies with known internal gene deletion. The results showed that, in the studied regions surrounding the deletions, processing of truncated transcripts is identical in specific (muscle tissue) and in nonspecific cells (lymphoid cells). In Becker cases with out-of-frame deletions, the already described alternatively spliced species found in muscle samples were also found in nonspecific cells. These results demonstrate that illegitimate transcripts are a bona fide version of tissue-specific mRNA, and that they represent a useful material to investigate the qualitative consequences of gene defects at the mRNA level.

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Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

J Chelly, H Gilgenkrantz, J P Hugnot, G Hamard, M Lambert, D Récan, S Akli, M Cometto, A Kahn, and J C Kaplan

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Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

J Chelly, H Gilgenkrantz, J P Hugnot, G Hamard, M Lambert, D Récan, S Akli, M Cometto, A Kahn, and J C Kaplan

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