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FIG. 1.—: Phylogenetic framework used in the search for the human gene origins. Taxa represented in the databases with complete genomes or a substantial amount of TRACE and EST data are in bold. Taxa in italics are represented in the databases only with small numbers of highly conserved genes, and their exclusion from the analysis does not influence the results.

Image Text (High Precision): Cellular EST arches bacteria craniata elephant lampreys platypus urchin

Other Images from "An Ancient Evolutionary Origin of Genes Associated with Human Genetic Diseases":

FIG. 1.— Phylogenetic framework used in the searc...

FIG. 3.— Probabilities of over- or underrepresent...

FIG. 2.— Phylostratigraphy of all human genes and...

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Abstract

Several thousand genes in the human genome have been linked to a heritable genetic disease. The majority of these appear to be nonessential genes (i.e., are not embryonically lethal when inactivated), and one could therefore speculate that they are late additions in the evolutionary lineage toward humans. Contrary to this expectation, we find that they are in fact significantly overrepresented among the genes that have emerged during the early evolution of the metazoa. Using a phylostratigraphic approach, we have studied the evolutionary emergence of such genes at 19 phylogenetic levels. The majority of disease genes was already present in the eukaryotic ancestor, and the second largest number has arisen around the time of evolution of multicellularity. Conversely, genes specific to the mammalian lineage are highly underrepresented. Hence, genes involved in genetic diseases are not simply a random subset of all genes in the genome but are biased toward ancient genes.