title: The human phylome.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Bioinformatics Department, Centro de Investigación Príncipe Felipe, Autopista del Saler, 46013 Valencia, Spain.
authors.forename: Jaime
authors.initials: J
authors.lastname: Huerta-Cepas
authors.forename: Hernán
authors.initials: H
authors.lastname: Dopazo
authors.forename: Joaquín
authors.initials: J
authors.lastname: Dopazo
authors.forename: Toni
authors.initials: T
authors.lastname: Gabaldón
mesh_terms: D000818:Animals; D005075:Biological Evolution; D019143:Evolution, Molecular; D020440:Gene Duplication; D016678:Genome; D006801:Humans; D010802:Phylogeny; D011506:Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D011506:Proteins