ArticleBMC genomics2015
Genome-wide analysis of chemically induced mutations in mouse in phenotype-driven screens.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
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- A macrocyclic kinase inhibitor overcomes triple resistant mutations in EGFR-positive lung cancer.NPJ precision oncology · 2024Article
- Prediction of Resistance Mutations Against Upcoming Anaplastic Lymphoma Kinase Inhibitors.Targeted oncology · 2022Article
- Machine Learning Techniques for Classifying the Mutagenic Origins of Point Mutations.Genetics · 2020Article
- Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance inFrontiers in cellular and infection microbiology · 2020Article
- Recent advances in understanding the genetics of sleep.F1000Research · 2020Review
- Methodology and theoretical basis of forward genetic screening for sleep/wakefulness in mice.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Prediction of ALK mutations mediating ALK-TKIs resistance and drug re-purposing to overcome the resistance.EBioMedicine · 2019Article
- Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.Disease models & mechanisms · 2018Article
- Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.Human genetics · 2017Article
- Ankyrin-1 Gene Exhibits Allelic Heterogeneity in Conferring Protection Against Malaria.G3 (Bethesda, Md.) · 2017Article
- A novel ENU-induced ankyrin-1 mutation impairs parasite invasion and increases erythrocyte clearance during malaria infection in mice.Scientific reports · 2016Article
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Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundN-ethyl-N-nitrosourea (ENU) mutagen has become the method of choice for inducing random mutations for forward genetics applications. However, distinguishing induced mutations from sequencing errors or sporadic mutations is difficult, which has hampered surveys of potential biases in the methodology in the past. Addressing this issue, we created a large cohort of mice with biological replicates enabling the confident calling of induced mutations, which in turn allowed us to conduct a comprehensive analysis of potential biases in mutation properties and genomic location.
resultsIn the exome sequencing data we observe the known preference of ENU to cause A:T=>G:C transitions in longer genes. Mutations were frequently clustered and inherited in blocks hampering attempts to pinpoint individual causative mutations by genome analysis only. Furthermore, ENU mutations were biased towards areas in the genome that are accessible in testis, potentially limiting the scope of forward genetic approaches to only 1-10% of the genome.
conclusionENU provides a powerful tool for exploring the genome-phenome relationship, however forward genetic applications that require the mutation to be passed on through the germ line may be limited to explore only genes that are accessible in testis.
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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.