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Home > A. Molecular pathology > alternative splicing

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alternative splicing

Alternative splicing (AS) is more a rule than an exception as it affects the expression of 60% of human genes.

Alternative splicing explains how a vast mammalian proteomic complexity is achieved with a limited number of genes.

Mutations in AS regulatory sequences are a widespread source of human disease.

AS regulation not only depends on the interaction of splicing factors with their target sequences in the pre-mRNA but is coupled to transcription.

A clearer picture is emerging of the mechanisms by which transcription affects AS through promoter identity and occupation.

These mechanisms involve the recruitment of factors with dual functions in transcription and splicing (i.e. that contain both functional domains and hence link the two processes) and the control of RNA polymerase II elongation.

See also

- RNA
- tumor-specific alternative splicing

References

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- Graveley BR.The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population.Trends Genet. 2008 Jan;24(1):5-7. PMID: 18054116

- Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007 Oct;8(10):749-61. PMID: 17726481

- Xing Y, Lee C. Alternative splicing and RNA selection pressure—evolutionary consequences for eukaryotic genomes. Nat Rev Genet. 2006 Jul;7(7):499-509. PMID: 16770337

- Kornblihtt AR. Promoter usage and alternative splicing. Curr Opin Cell Biol. 2005 Jun;17(3):262-8. PMID: 15901495

- Venables JP. Aberrant and alternative splicing in cancer. Cancer Res. 2004 Nov 1;64(21):7647-54. PMID:15520162

- Wen F, Li F, Xia H, Lu X, Zhang X, Li Y. The impact of very short alternative splicing on protein structures and functions in the human genome. Trends Genet. 2004 May;20(5):232-6. PMID: 15109776

- Kriventseva EV, Koch I, Apweiler R, Vingron M, Bork P, Gelfand MS, Sunyaev S. Increase of functional diversity by alternative splicing. Trends Genet. 2003 Mar;19(3):124-8. PMID: 12615003

- Stamm S. Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome. Hum Mol Genet. 2002 Oct 1;11(20):2409-16. PMID: 12351576

- Caceres JF, Kornblihtt AR. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 2002 Apr;18(4):186-93. PMID: 11932019