ArticlePloS one2011
Defining the role of essential genes in human disease.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 101 citations in OpenAlex.
- Essential lncRNAs in the human transcriptome.Cell genomics · 2026Article
- Subtractive proteomics and molecular docking identify therapeutic targets and drug candidates in drug resistant Klebsiella Michiganensis THO-011.Scientific reports · 2025Article
- RETRACTED: Transcriptome-scale RNA-targeting CRISPR screens reveal essential lncRNAs in human cellsCell · 2024Article
- In silico discovery of druggable targets in Citrobacter koseri using echinoderm metabolites and molecular dynamics simulation.Scientific reports · 2024Article
- HELP: A computational framework for labelling and predicting human common and context-specific essential genes.PLoS computational biology · 2024Article
- Embryonic Lethal Phenotyping to Identify Candidate Genes Related with Birth Defects.International journal of molecular sciences · 2024Article
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Integration of molecular docking and molecular dynamics simulations with subtractive proteomics approach to identify the novel drug targets and their inhibitors in Streptococcus gallolyticus.Scientific reports · 2024Article
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
- Essential genes: a cross-species perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Identification of discriminant features from stationary pattern of nucleotide bases and their application to essential gene classification.Frontiers in genetics · 2023Article
- Leveraging gene co-regulation to identify gene sets enriched for disease heritability.American journal of human genetics · 2022Article
- Identification of essential genes in Caenorhabditis elegans through whole-genome sequencing of legacy mutant collections.G3 (Bethesda, Md.) · 2021Article
- DELEAT: gene essentiality prediction and deletion design for bacterial genome reduction.BMC bioinformatics · 2021Article
- NOGEA: A Network-oriented Gene Entropy Approach for Dissecting Disease Comorbidity and Drug Repositioning.Genomics, proteomics & bioinformatics · 2021Article
- A Computational Framework Based on Ensemble Deep Neural Networks for Essential Genes Identification.International journal of molecular sciences · 2020Article
- Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.PLoS computational biology · 2020Article
- Human and mouse essentiality screens as a resource for disease gene discovery.Nature communications · 2020Article
- Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.Human genomics · 2019Review
- Phylostratigraphic Analysis Shows the Earliest Origination of the Abiotic Stress Associated Genes inGenes · 2019Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
A greater understanding of the causes of human disease can come from identifying characteristics that are specific to disease genes. However, a full understanding of the contribution of essential genes to human disease is lacking, due to the premise that these genes tend to cause developmental abnormalities rather than adult disease. We tested the hypothesis that human orthologs of mouse essential genes are associated with a variety of human diseases, rather than only those related to miscarriage and birth defects. We segregated human disease genes according to whether the knockout phenotype of their mouse ortholog was lethal or viable, defining those with orthologs producing lethal knockouts as essential disease genes. We show that the human orthologs of mouse essential genes are associated with a wide spectrum of diseases affecting diverse physiological systems. Notably, human disease genes with essential mouse orthologs are over-represented among disease genes associated with cancer, suggesting links between adult cellular abnormalities and developmental functions. The proteins encoded by essential genes are highly connected in protein-protein interaction networks, which we find correlates with an over-representation of nuclear proteins amongst essential disease genes. Disease genes associated with essential orthologs also are more likely than those with non-essential orthologs to contribute to disease through an autosomal dominant inheritance pattern, suggesting that these diseases may actually result from semi-dominant mutant alleles. Overall, we have described attributes found in disease genes according to the essentiality status of their mouse orthologs. These findings demonstrate that disease genes do occupy highly connected positions in protein-protein interaction networks, and that due to the complexity of disease-associated alleles, essential genes cannot be ignored as candidates for causing diverse human diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.