Ectopic Transcription


Ectopic (or illegitimate) transcription is the very low level of transcription of ‘tissue‐specific’ genes in cell types lacking obvious requirement for the gene product. Thought to be produced by every gene in every cell type, ectopic transcripts isolated from patient blood are useful for gene mutation studies if the main expressing tissue of a disease gene is inaccessible.

Keywords: transcription; tissue‐specific; RT‐PCR; mutation; splicing


Berg L‐P, Soria JM, Formstone CJ, et al. (1996) Aberrant RNA splicing in the protein C and protein S genes in healthy individuals. Blood Coagulation and Fibrinolysis 7: 625–631.

Chelly J, Concordet J‐P, Kaplan J‐C and Kahn A (1989) Illegitimate transcription: transcription of any gene in any cell type. Proceedings of the National Academy of Sciences of the United States of America 86: 2617–2621.

Chelly J, Kaplan J‐C, Maire P, Gautron S and Kahn A (1988) Transcription of the dystrophin gene in human muscle and non‐muscle tissues. Nature 333: 858–860.

Kimoto Y (1998) A single cell expresses all messenger ribonucleic acids: the arrow of time in a cell. Molecular and General Genetics 258: 233–239.

Salbe C, de Cremoux P, Boneton C, et al. (2000) Illegitimate villin transcription in normal bone marrow precludes detection of colon cancer micrometastases. International Journal of Biological Markers 15(1): 41–43.

Sarkar G and Sommer S (1989) Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 244: 331–334.

Tuffery S, Chambert S, Bareil C, et al. (1998) Mutation analysis of the dystrophin gene in southern French DMD or BMD families: from Southern blot to protein truncation test. Human Genetics 102(3): 334–342.

Waseem NH, Bagnall R, Green PM and Giannelli F (1999) Start of UK confidential haemophilia S database: analysis of 142 patients by solid‐phase fluorescent chemical cleavage of mismatch haemophilia centres. Thrombosis and Haemostasis 81(6): 900–905.

Whittock NV, Roberts RG, Mathew CG and Abbs SJ (1997) Dystrophin point mutation screening using a multiplexed protein truncation test. Genetic Testing 1(2): 115–123.

Wong IH, Chan AT and Johnson PJ (2000) Quantitative analysis of circulating tumor cells in peripheral blood of osteosarcoma patients using osteoblast‐specific messenger RNA markers: a pilot study. Clinical Cancer Research 6(6): 2183–2188.

Further Reading

Cooper DN, Berg L‐P, Kakkar VV and Reiss J (1994) Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease. Annals of Medicine 26: 9–14.

Kaplan J‐C, Kahn A and Chelly J (1992) Illegitimate transcription: its use in the study of inherited disease. Human Mutation 1: 357–360.

Web Links

Coagulation factor VIII, procoagulant component (hemophilia A) (F8); Locus ID: 2157. LocusLink:

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

Coagulation factor VIII, procoagulant component (hemophilia A) (F8); MIM number: 306700. OMIM:‐post/Omim/dispmim?306700

Dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD); MIM number 310200. OMIM:‐post/Omim/dispmim?310200

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How to Cite close
Berg, Lutz‐Peter(Sep 2005) Ectopic Transcription. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005285]