The physiology of alternative splicing

doi:10.1038/s41580-022-00545-z

Review

. 2023 Apr;24(4):242-254.

doi: 10.1038/s41580-022-00545-z. Epub 2022 Oct 13.

The physiology of alternative splicing

Luciano E Marasco^{1

2}, Alberto R Kornblihtt³

Affiliations

¹ Universidad de Buenos Aires (UBA), Facultad de Ciencias Exactas y Naturales, Departamento de Fisiología, Biología Moleculary Celular and CONICET-UBA, Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), Buenos Aires, Argentina.
² Sir William Dunn School of Pathology, University of Oxford, Oxford, UK.
³ Universidad de Buenos Aires (UBA), Facultad de Ciencias Exactas y Naturales, Departamento de Fisiología, Biología Moleculary Celular and CONICET-UBA, Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), Buenos Aires, Argentina. [email protected].

PMID: 36229538
DOI: 10.1038/s41580-022-00545-z

Review

The physiology of alternative splicing

Luciano E Marasco et al. Nat Rev Mol Cell Biol. 2023 Apr.

. 2023 Apr;24(4):242-254.

doi: 10.1038/s41580-022-00545-z. Epub 2022 Oct 13.

Authors

Luciano E Marasco^{1

2}, Alberto R Kornblihtt³

Affiliations

¹ Universidad de Buenos Aires (UBA), Facultad de Ciencias Exactas y Naturales, Departamento de Fisiología, Biología Moleculary Celular and CONICET-UBA, Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), Buenos Aires, Argentina.
² Sir William Dunn School of Pathology, University of Oxford, Oxford, UK.
³ Universidad de Buenos Aires (UBA), Facultad de Ciencias Exactas y Naturales, Departamento de Fisiología, Biología Moleculary Celular and CONICET-UBA, Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), Buenos Aires, Argentina. [email protected].

PMID: 36229538
DOI: 10.1038/s41580-022-00545-z

Abstract

Alternative splicing is a substantial contributor to the high complexity of transcriptomes of multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of this complexity is reflected at the protein level and fundamentally shapes the physiology and pathology of organisms. This notion is supported not only by genome-wide analyses but, mainly, by detailed studies showing that global and gene-specific modulations of alternative splicing regulate highly diverse processes such as tissue-specific and species-specific cell differentiation, thermal regulation, neuron self-avoidance, infrared sensing, the Warburg effect, maintenance of telomere length, cancer and autism spectrum disorders (ASD). We also discuss how mastering the control of alternative splicing paved the way to clinically approved therapies for hereditary diseases.

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References

1. Chow, L. T., Gelinas, R. E., Broker, T. R. & Roberts, R. J. An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell 12, 1–8 (1977). - PubMed - DOI
1. Berget, S. M., Moore, C. & Sharp, P. A. Spliced segments at the 5′ terminus of adenovirus 2 late mRNA. Proc. Natl Acad. Sci. USA 74, 3171–3175 (1977). - PubMed - PMC - DOI
1. Gilbert, W. Why genes in pieces? Nature 271, 501 (1978). - PubMed - DOI
1. Khan, M. R., Wellinger, R. J. & Laurent, B. Exploring the alternative splicing of long noncoding RNAs. Trends Genet. 37, 695–698 (2021). - PubMed - DOI
1. Rogers, S. O. Integrated evolution of ribosomal RNAs, introns, and intron nurseries. Genetica 147, 103–119 (2019). - PubMed - DOI

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[1] Chow, L. T., Gelinas, R. E., Broker, T. R. & Roberts, R. J. An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell 12, 1–8 (1977). - PubMed - DOI

[2] Chow, L. T., Gelinas, R. E., Broker, T. R. & Roberts, R. J. An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell 12, 1–8 (1977). - PubMed - DOI

[3] Berget, S. M., Moore, C. & Sharp, P. A. Spliced segments at the 5′ terminus of adenovirus 2 late mRNA. Proc. Natl Acad. Sci. USA 74, 3171–3175 (1977). - PubMed - PMC - DOI

[4] Berget, S. M., Moore, C. & Sharp, P. A. Spliced segments at the 5′ terminus of adenovirus 2 late mRNA. Proc. Natl Acad. Sci. USA 74, 3171–3175 (1977). - PubMed - PMC - DOI

[5] Gilbert, W. Why genes in pieces? Nature 271, 501 (1978). - PubMed - DOI

[6] Gilbert, W. Why genes in pieces? Nature 271, 501 (1978). - PubMed - DOI

[7] Khan, M. R., Wellinger, R. J. & Laurent, B. Exploring the alternative splicing of long noncoding RNAs. Trends Genet. 37, 695–698 (2021). - PubMed - DOI

[8] Khan, M. R., Wellinger, R. J. & Laurent, B. Exploring the alternative splicing of long noncoding RNAs. Trends Genet. 37, 695–698 (2021). - PubMed - DOI

[9] Rogers, S. O. Integrated evolution of ribosomal RNAs, introns, and intron nurseries. Genetica 147, 103–119 (2019). - PubMed - DOI

[10] Rogers, S. O. Integrated evolution of ribosomal RNAs, introns, and intron nurseries. Genetica 147, 103–119 (2019). - PubMed - DOI

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The physiology of alternative splicing

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The physiology of alternative splicing

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