TY - JOUR
T1 - Illegitimate transcription
T2 - Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from duchenne and becker patients
AU - Chelly, J.
AU - Gilgenkrantz, H.
AU - Hugnot, J. P.
AU - Hamard, G.
AU - Lambert, M.
AU - Récan, D.
AU - Akli, S.
AU - Cometto, M.
AU - Kahn, A.
AU - Kaplan, J. C.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
KW - Deletion
KW - Ectopic transcription
KW - Reading frame
KW - cDNA-polymerase chain reaction
KW - mRNA processing
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M3 - Article
C2 - 1918370
AN - SCOPUS:0026018070
SN - 0021-9738
VL - 88
SP - 1161
EP - 1166
JO - Journal of Clinical Investigation
JF - Journal of Clinical Investigation
IS - 4
ER -