Illegitimate Transcription. Application to the Analysis of Truncated Transcripts of the Dystrophin Gene in Nonmuscle Cultured Cells from Duchenne and Becker Patients

Overview

Journal J Clin Invest

Specialty General Medicine

Date 1991 Oct 1

PMID 1918370

Citations 17

Authors

J Chelly

H Gilgenkrantz

J P Hugnot

G Hamard

M Lambert

D Recan

S Akli

M Cometto

A Kahn

J C Kaplan

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient.

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Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

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Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient.

Saito T, Nakamura A, Aoki Y, Yokota T, Okada T, Osawa M PLoS One. 2010; 5(8):e12239.

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Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.

Zhang Z, Habara Y, Nishiyama A, Oyazato Y, Yagi M, Takeshima Y J Hum Genet. 2007; 52(7):607-617.

PMID: 17579806 DOI: 10.1007/s10038-007-0163-0.

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