Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.
Year: 1991
Type: article
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 dystro- phin mRNA in easily accessible cells such as lymphoid cells, fibroblasts, and peripheral blood cells from Duchenne and Becker muscular dystrophies with known internal gene dele- tion.The results showed that, in the studied regions surround- ing the deletions, processing of truncated transcripts is identi- cal 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.(J.Clin.Invest.1991.88:1161-1166.)Key words: mRNA processing -reading frame * deletion .ectopic transcription -cDNA-polymerase chain reaction (DMD)' and Becker (BMD) muscular dystrophies, cystic fibro- sis, neurofibromatosis type 1).In theory, searching for un- known mutations is much easier ifmRNA is used as a source of genetic material, since the coding sequence is more compact in mRNA than in DNA.We have already demonstrated that the defects found in transcripts from a ubiquitously expressed gene, such as a subunit of f,-hexosaminidase A, faithfully re- flect the DNA abnormality (1, la).However, this strategy is
DOI: 10.1172/jci115417
Institutions: Inserm, Institut Cochin, Hôpital Cochin
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2000593319