Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution
Abstract
The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome.
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The estimate of 23,300 genes in the sea urchin is similar to estimates for vertebrates, despite two whole-genome duplications believed to have occurred in the chordate lineage after divergence from echinoderms.
“Our estimate of 23,300 genes is similar to estimates for vertebrates, despite the fact that two whole-genome duplications are believed to have occurred in the chordate lineage after divergence from the lineage leading to the echinoderms (25)(26)(27).”
From The Genome of the Sea Urchin <i>Strongylocentrotus purpuratus</i> (2006) · cites this paper as [26]
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The major histocompatibility complex origin
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Self-citationGenome duplication strikes back
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- Authors
- Gu, X., Wang, Y., & Gu, J.
- Affiliations
- Iowa State University (US)
- American Type Culture Collection (US)
- Corresponding author
- Gu, Xun
- Venue
- Nature Genetics
- Published
- 2002-05-28
- Volume
- 31
- Issue
- 2
- Pages
- 205-209
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2026055857
- Cited by
- 257
- References
- 30
- Citations by year
- 2025: 6 · 2024: 7 · 2023: 1 · 2022: 2 · 2021: 14 · 2020: 5 · 2019: 5 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 3 · 2014: 3 · 2013: 7 · 2012: 9
- FWCI
- 47.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- gene duplication, whole-genome duplication, continuous mode, tandem duplication, segmental duplication, paralogs, human proteome, vertebrate evolution
- MeSH terms
- Animals, Multigene Family, Humans, Molecular Sequence Data, Vertebrates, Evolution, Molecular, Gene Duplication
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