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PMID: 18433472 Published · epublish English Journal Article Research Support, Non-U.S. Gov't

Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

BMC molecular biology ·Vol. 9 ·2008-04-23 ·Pages 42

Triques K, Piednoir E, Dalmais M, Schmidt J, Le Signor C, Sharkey M, Caboche M, Sturbois B, Bendahmane A

Abstract

Most 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. The 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. We 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.

MeSH Terms
Alanine Amino Acid Substitution Arabidopsis/enzymology,genetics Arabidopsis Proteins/genetics,metabolism Base Sequence DNA Mutational Analysis/methods Deoxyribonucleases/genetics,metabolism Disease Factor V/genetics Gene Expression Regulation, Enzymologic Genome Glycine/genetics HIV-1/genetics,isolation & purification Humans Molecular Sequence Data Mutagenesis/genetics Mutation/genetics Peas/genetics Venous Thrombosis/diagnosis,genetics
Chemicals
Arabidopsis Proteins BFN1 protein, Arabidopsis Factor V Deoxyribonucleases Alanine Glycine
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Triques Karine
Unité Mixte de Recherche en Génomique Végétale, 2 rue Gaston Crémieux, CP5708, 91 057 Evry Cedex, France. karine.triques@interieur.gouv.fr
Piednoir Elodie
Dalmais Marion
Schmidt Julien
Le Signor Christine
Sharkey Mark
Caboche Michel
Sturbois Bénédicte
Bendahmane Abdelhafid
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Article Info
Journal
BMC molecular biology
Abbr.
BMC Mol Biol
ISSN
1471-2199
DOI
10.1186/1471-2199-9-42
Email
karine.triques@interieur.gouv.fr
Published
2008-04-23
Epub
2008-00-23
Pages
42
Language
English
Region
England
NLM ID
100966983
PMCID
PMC2386800
Subset
IM
External Links
PubMed source DOI: 10.1186/1471-2199-9-42 PMC Full Text View journal details
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