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Cited by 454RNA Research and SplicingChromosomal and Genetic VariationsEvolution and Genetic Dynamics

Alternative splicing as a source of phenotypic diversity

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Wright, Charlotte J., Smith, Christopher W. J., Jiggins, Chris D.·2022·Nature Reviews Genetics
DOI 10.1038/s41576-022-00514-4
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Abstract

A major goal of evolutionary genetics is to understand the genetic processes that give rise to phenotypic diversity in multicellular organisms. Alternative splicing generates multiple transcripts from a single gene, enriching the diversity of proteins and phenotypic traits. It is well established that alternative splicing contributes to key innovations over long evolutionary timescales, such as brain development in bilaterians. However, recent developments in long-read sequencing and the generation of high-quality genome assemblies for diverse organisms has facilitated comparisons of splicing profiles between closely related species, providing insights into how alternative splicing evolves over shorter timescales. Although most splicing variants are probably non-functional, alternative splicing is nonetheless emerging as a dynamic, evolutionarily labile process that can facilitate adaptation and contribute to species divergence.

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  • Different isoforms of the same gene are often involved in distinct biological processes.

    “Different isoforms of the same gene are often involved in distinct biological processes.29”

    From hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data (2023) · cites this paper as [29]

    The Introduction says that a single gene can generate functionally distinct protein isoforms, and the FOXP1 example describes isoforms associated with pluripotency-gene regulation versus cell differentiation. But Box 2 says it remains unclear how many alternative transcripts produce functionally relevant protein isoforms, so the source does not establish that isoforms often have distinct biological roles. The supplied passages have section labels but no page numbers. (LLM, conf=0.80)

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Cited by

Sorted by citations

Authors
Wright, C. J., Smith, C. W. J., & Jiggins, C. D.
Affiliations
University of Cambridge (GB)
Corresponding author
  • Wright, Charlotte J.
  • Smith, Christopher W. J.
  • Jiggins, Chris D.
ORCID
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2022-07-12
Volume
23
Issue
11
Pages
697-710
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/s41576-022-00514-4
OpenAlex
W4285092137
Cited by
454
References
13
Citations by year
2026: 91 · 2025: 143 · 2024: 142 · 2023: 66 · 2022: 12
FWCI
9.76
Type
journal article
Language
en
Open access
Licence
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Apollo (University of Cambridge) (submittedVersion, cc-by)
  • Apollo
Funders
  • Wellcome Trust (339873, 209368/Z/17/Z, 218328, Z/17/Z, 209368, WT206194, 218328/A/19/Z, 206194)
  • University of Cambridge
  • Directorate for Biological Sciences
  • Biotechnology and Biological Sciences Research Council (BB/R007500/1)
  • FP7 Ideas: European Research Council (339873)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
Keywords
alternative splicing, phenotypic diversity, adaptation, species divergence, splice variants, transcriptome evolution, long-read sequencing
MeSH terms
Biological Evolution, Phenotype, Proteins, RNA Splicing, Alternative Splicing

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