The human phylome
Open accessAbstract
Background: Phylogenomics analyses serve to establish evolutionary relationships among organisms and their genes. A phylome, the complete collection of all gene phylogenies in a genome, constitutes a valuable source of information, but its use in large genomes still constitutes a technical challenge. The use of phylomes also requires the development of new methods that help us to interpret them. Results: We reconstruct here the human phylome, which includes the evolutionary relationships of all human proteins and their homologs among 39 fully sequenced eukaryotes. Phylogenetic techniques used include alignment trimming, branch length optimization, evolutionary model testing and maximum likelihood and Bayesian methods. Although differences with alternative topologies are minor, most of the trees support the Coelomata and Unikont hypotheses as well as the grouping of primates with laurasatheria to the exclusion of rodents. We assess the extent of gene duplication events and their relationship with the functional roles of the protein families involved. We find support for at least one, and probably two, rounds of whole genome duplications before vertebrate radiation. Using a novel algorithm that is independent from a species phylogeny, we derive orthology and paralogy relationships of human proteins among eukaryotic genomes. Conclusion: Topological variations among phylogenies for different genes are to be expected, highlighting the danger of gene-sampling effects in phylogenomic analyses. Several links can be established between the functions of gene families duplicated at certain phylogenetic splits and major evolutionary transitions in those lineages. The pipeline implemented here can be easily adapted for use in other organisms.
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The species-overlap method identifies nodes as duplication nodes if the sets of species below its child nodes overlap; otherwise, the node is a speciation node.
“In this method, nodes in the gene tree are identified as duplication nodes if the sets of species below its child nodes overlap; otherwise, the node is a speciation node.”
From OrthoFinder: phylogenetic orthology inference for comparative genomics (2019) · cites this paper as [31]
Genes that diverged at a speciation node are orthologs, and those that diverged at a duplication node are paralogs.
“Genes that diverged at a speciation node are orthologs, and those that diverged at a duplication node are paralogs.”
From OrthoFinder: phylogenetic orthology inference for comparative genomics (2019) · cites this paper as [31]
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“This and other recent findings [85] reinforce the older view [86] that topological differences among phylogenies of proteins are to be expected even in the absence of HGT and underscore the danger of gene-sampling effects when combining the phylogenetic signals of several genes [34].”
ResultThe human zoo: endogenous retroviruses in the human genome
Bromham, L. (2002) · Trends in Ecology & Evolution · doi:10.1016/s0169-5347(01)02394-1 · Cited by 46 · see citing works
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- Authors
- Huerta-Cepas, J., Dopazo, H., Dopazo, J., & Gabaldón, T.
- Affiliations
- Centro de Investigacion Principe Felipe (ES)
- Corresponding author
- Gabaldón, Toni
- Venue
- Genome Biology
- Published
- 2007-06-13
- Volume
- 8
- Issue
- 6
- Pages
- R109-R109
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- PMC
- PMC2394744
- OpenAlex
- W2162327194
- Cited by
- 176
- References
- 8
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 4 · 2023: 5 · 2022: 6 · 2021: 4 · 2020: 8 · 2019: 7 · 2018: 8 · 2017: 7 · 2016: 4 · 2015: 9 · 2014: 10 · 2013: 9 · 2012: 12
- FWCI
- 6.41
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Generalitat Valenciana
- Barcelona Supercomputing Center
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protist diversity and phylogeny
- Keywords
- gene phylogeny, eukaryotic phylogeny, primate phylogeny, rodents, whole-genome duplication, gene duplication, orthology, paralogy, gene family evolution
- MeSH terms
- Animals, Biological Evolution, Humans, Phylogeny, Proteins, Genome, Sequence Analysis, DNA, Evolution, Molecular, Gene Duplication
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