ArticleMolecular biology and evolution2008
An ancient evolutionary origin of genes associated with human genetic diseases.
Article in Molecular biology and evolution, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers.
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Who cites it
100 citing papers in PubMed, 192 citations in OpenAlex.
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- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
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- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- The old friends hypothesis: evolution, immunoregulation and essential microbial inputs.Frontiers in allergy · 2023Review
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- Toxicity by descent: A comparative approach for chemical hazard assessment.Environmental advances · 2022Article
- Oxytocin receptor expression patterns in the human brain across development.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Article
- Evolution, the Immune System, and the Health Consequences of Socioeconomic Inequality.mSystems · 2022Article
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40 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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