ArticleBMC molecular biology2008
Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.
Article in BMC molecular biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 58 citations in OpenAlex.
- Construction and analysis of a Noccaea caerulescens TILLING population.BMC plant biology · 2022Article
- Reducing MSH4 copy number prevents meiotic crossovers between non-homologous chromosomes in Brassica napus.Nature communications · 2019Article
- Generation of Mycoplasma hominis gene-targeted mutants by targeting-induced local lesions in genomes (TILLING).BMC genomics · 2018Article
- FANCM Limits Meiotic Crossovers in Brassica Crops.Frontiers in plant science · 2018Article
- Comparison of T7E1 and surveyor mismatch cleavage assays to detect mutations triggered by engineered nucleases.G3 (Bethesda, Md.) · 2015Article
- Development and evaluation of a cucumber TILLING population.BMC research notes · 2014Article
- SMART--Sunflower Mutant population And Reverse genetic Tool for crop improvement.BMC plant biology · 2013Article
- Updating the Micro-Tom TILLING platform.Breeding science · 2013Article
- A conserved molecular basis for photoperiod adaptation in two temperate legumes.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Application of genomic tools in plant breeding.Current genomics · 2012Article
- Error correction in gene synthesis technology.Trends in biotechnology · 2012Review
- Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer.Gastroenterology · 2011Article
- Tomato TILLING technology: development of a reverse genetics tool for the efficient isolation of mutants from Micro-Tom mutant libraries.Plant & cell physiology · 2011Article
- TILLING: a shortcut in functional genomics.Journal of applied genetics · 2011Review
- EcoTILLING in Capsicum species: searching for new virus resistances.BMC genomics · 2010Article
- Natural and artificial mutants as valuable resources for functional genomics and molecular breeding.International journal of biological sciences · 2010Review
- Implementation of two high through-put techniques in a novel application: detecting point mutations in large EMS mutated plant populations.Plant methods · 2009Article
- High-resolution melting analysis of cDNA-derived PCR amplicons for rapid and cost-effective identification of novel alleles in barley.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2009Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMost enzymatic mutation detection methods are based on the cleavage of heteroduplex DNA by a mismatch-specific endonuclease at mismatch sites and the analysis of the digestion product on a DNA sequencer. Important limitations of these methods are the availability of a mismatch-specific endonuclease, their sensitivity in detecting one allele in pool of DNA, the cost of the analysis and the ease by which the technique could be implemented in a standard molecular biology laboratory.
resultsThe co-agroinfiltration of ENDO1 and p19 constructs into N. benthamiana leaves allowed high level of transient expression of a mismatch-specific and sensitive endonuclease, ENDO1 from Arabidopsis thaliana. We demonstrate the broad range of uses of the produced enzyme in detection of mutations. In human, we report the diagnosis of the G1691A mutation in Leiden factor-V gene associated with venous thrombosis and the fingerprinting of HIV-1 quasispecies in patients subjected to antiretroviral treatments. In plants, we report the use of ENDO1 system for detection of mutant alleles of Retinoblastoma-related gene by TILLING in Pisum sativum and discovery of natural sequence variations by Eco-TILLING in Arabidopsis thaliana.
conclusionWe introduce a cost-effective tool based on a simplified purification protocol of a mismatch-specific and sensitive endonuclease, ENDO1. Especially, we report the successful applications of ENDO1 in mutation diagnostics in humans, fingerprinting of complex population of viruses, and in TILLING and Eco-TILLING in plants.
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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.