Evolutionary Dynamics of Gene and Isoform Regulation in Mammalian Tissues
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Whence Species Variation?: Vertebrates have widely varying phenotypes that are at odds with their much more limited proteincoding genotypes and conserved messenger RNA expression patterns. Genes with multiple exons and introns can undergo alternative splicing, potentially resulting in multiple protein isoforms (see the Perspective by Papasaikas and Valcárcel ). Barbosa-Morais et al. (p. 1587 ) and Merkin et al. (p. 1593 ) analyzed alternative splicing across the genomes of a variety of vertebrates, including human, primates, rodents, opossum, platypus, chicken, lizard, and frog. The findings suggest that the evolution of alternative splicing has for the most part been very rapid and that alternative splicing patterns of most organs more strongly reflect the identity of the species rather than the organ type. Species-classifying alternative splicing can affect key regulators, often in disordered regions of proteins that may influence protein-protein interactions, or in regions involved in protein phosphorylation.
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Whole genome analyses brought a new appreciation of the pervasiveness and regulatory reach of alternative splicing in metazoan organisms.
“The advent of whole genome analyses10,12,188,189 brought a new appreciation of its pervasiveness and regulatory reach in metazoan organisms190,191.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [191]
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- Authors
- Merkin, J., Russell, C., Chen, P., & Burge, C. B.
- Affiliations
- Massachusetts Institute of Technology (US)
- University of Helsinki (FI)
- Corresponding author
- Burge, Christopher B.
- Venue
- Science
- Published
- 2012-12-21
- Volume
- 338
- Issue
- 6114
- Pages
- 1593-1599
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3568499
- OpenAlex
- W1532846663
- Cited by
- 972
- References
- 45
- Citations by year
- 2026: 47 · 2025: 49 · 2024: 93 · 2023: 67 · 2022: 68 · 2021: 103 · 2020: 73 · 2019: 64 · 2018: 75 · 2017: 70 · 2016: 73 · 2015: 71 · 2014: 78 · 2013: 40 · 2012: 1
- FWCI
- 24.44
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion)
- PMC
- Funders
- National Science Foundation (0821391)
- Broad Institute
- Scheme for Promotion of Academic and Research Collaboration
- National Institutes of Health (OD-011092, P51OD011092)
- National Human Genome Research Institute (R01HG002439)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Keywords
- alternative splicing, tissue-specific gene expression, mammalian transcriptome, alternative exons, splicing factors, PTB, stars, transient ischemic attack, protein phosphorylation, kinase signaling, evolutionary conservation
- MeSH terms
- Animals, Cattle, Chickens, DNA-Binding Proteins, Biological Evolution, Exons, Gene Expression Regulation, Introns, Macaca mulatta, Male, Mammals, Models, Genetic, Phosphorylation, Phylogeny, Protein Kinases, RNA Splicing, RNA-Binding Proteins, Conserved Sequence, Alternative Splicing, Sequence Analysis, DNA, DNA, Complementary, Evolution, Molecular, Protein Isoforms, Gene Expression Profiling, RNA Splice Sites, Mice, Rats, Transcriptome
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