DOI: 10.1002/path.2649. The pathobiology of splicing

10.1002/path.2649

Crossref journal-article

Wiley

The Journal of Pathology (311)

Abstract

AbstractNinety‐four percent of human genes are discontinuous, such that segments expressed as mRNA are contained within exons and separated by intervening segments, called introns. Following transcription, genes are expressed as precursor mRNAs (pre‐mRNAs), which are spliced co‐transcriptionally, and the flanking exons are joined together to form a continuous mRNA. One advantage of this architecture is that it allows alternative splicing by differential use of exons to generate multiple mRNAs from individual genes. Regulatory elements located within introns and exons guide the splicing complex, the spliceosome, and auxiliary RNA binding proteins to the correct sites for intron removal and exon joining. Misregulation of splicing and alternative splicing can result from mutations in cis‐regulatory elements within the affected gene or from mutations that affect the activities of trans‐acting factors that are components of the splicing machinery. Mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. An understanding of the role of splicing in disease expands potential opportunities for therapeutic intervention by either directly addressing the cause or by providing novel approaches to circumvent disease processes. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Bibliography

Ward, A. J., & Cooper, T. A. (2009). The pathobiology of splicing. The Journal of Pathology, 220(2), 152â163. Portico.

Authors 2

Amanda J Ward (first)
Thomas A Cooper (additional)

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Dates

Type	When
Created	15 years, 9 months ago (Nov. 13, 2009, 8:36 a.m.)
Deposited	1 year, 11 months ago (Sept. 13, 2023, 5:43 a.m.)
Indexed	1 week, 5 days ago (Aug. 20, 2025, 8:53 a.m.)
Issued	15 years, 9 months ago (Nov. 13, 2009)
Published	15 years, 9 months ago (Nov. 13, 2009)
Published Online	15 years, 9 months ago (Nov. 13, 2009)
Published Print	15 years, 8 months ago (Jan. 1, 2010)

Funders 0

None

BibTeX

@article{Ward_2009, title={The pathobiology of splicing}, volume={220}, ISSN={1096-9896}, url={http://dx.doi.org/10.1002/path.2649}, DOI={10.1002/path.2649}, number={2}, journal={The Journal of Pathology}, publisher={Wiley}, author={Ward, Amanda J and Cooper, Thomas A}, year={2009}, month=nov, pages={152–163} }

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