Du W, Marsac C, Kruschina M, Ortigao F, Florentz C
Functionalized self-assembled monolayer on gold for detection of human mitochondrial tRNA gene mutations Article de journal
Dans: Anal Biochem, vol. 322, no. 1, p. 14-25, 2003, ISBN: 14705775, (0003-2697 Journal Article).
Résumé | Liens | BibTeX | Étiquettes: Alleles *Gold Human MELAS Syndrome/genetics MERRF Syndrome/genetics Nucleic Acid Hybridization/genetics Oligonucleotide Array Sequence Analysis Point Mutation/*genetics Polymerase Chain Reaction Polymorphism, FLORENTZ, Non-U.S. Gov't, Single Nucleotide/*genetics RNA/*genetics RNA, Transfer/*genetics Support, Unité ARN
@article{,
title = {Functionalized self-assembled monolayer on gold for detection of human mitochondrial tRNA gene mutations},
author = {W Du and C Marsac and M Kruschina and F Ortigao and C Florentz},
url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14705775},
isbn = {14705775},
year = {2003},
date = {2003-01-01},
journal = {Anal Biochem},
volume = {322},
number = {1},
pages = {14-25},
abstract = {We developed a rapid and simple method to identify single-nucleotide polymorphisms (SNPs) in the human mitochondrial tRNA genes. This method is based on a universal, functionalized, self-assembled monolayer, XNA on Gold chip platform. A set of probes sharing a given allele-specific sequence with a single base substitution near the middle of the sequence was immobilized on chips and the chips were then hybridized with fluorescence-labeled reference targets produced by asymmetric polymerase chain reaction from patient DNA. The ratio of the hybridization signals from the reference and test targets with each probe was then calculated. A ratio of above 3 indicates the presence of a wild-type sequence and a ratio of below 0.3 indicates a mutant sequence. We tested the sensitivity of the chip for known mutations in tRNA(Leu(UUR)) and tRNA(Lys) genes and found that it can also be used to discriminate multiple mutations and heteroplasmy, two typical features of human mitochondrial DNA. The XNA on Gold biochip method is a simple and rapid microarray method that can be used to test rapidly and reliably any SNP in the mitochondrial genome or elsewhere. It will be particularly useful for detecting SNPs associated with human diseases.},
note = {0003-2697
Journal Article},
keywords = {Alleles *Gold Human MELAS Syndrome/genetics MERRF Syndrome/genetics Nucleic Acid Hybridization/genetics Oligonucleotide Array Sequence Analysis Point Mutation/*genetics Polymerase Chain Reaction Polymorphism, FLORENTZ, Non-U.S. Gov't, Single Nucleotide/*genetics RNA/*genetics RNA, Transfer/*genetics Support, Unité ARN},
pubstate = {published},
tppubtype = {article}
}
Rabilloud T, Strub J M, Carte N, Luche S, Dorsselaer A Van, Lunardi J, Giege R, Florentz C
Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders Article de journal
Dans: Biochemistry, vol. 41, no. 1, p. 144-150, 2002, ISBN: 11772011, (0006-2960 Journal Article).
Résumé | Liens | BibTeX | Étiquettes: Amino Acid Sequence Cell Line Cell Nucleus/physiology Comparative Study DNA, FLORENTZ, Gel, Inborn/*metabolism Human Mitochondria/*metabolism Mitochondrial Proteins/*metabolism Molecular Sequence Data *Point Mutation Proteome RNA/*genetics RNA, Mitochondrial/physiology Electrophoresis, Non-U.S. Gov't, Transfer/*genetics Support, Two-Dimensional/methods Genetic Diseases, Unité ARN
@article{,
title = {Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders},
author = {T Rabilloud and J M Strub and N Carte and S Luche and A Van Dorsselaer and J Lunardi and R Giege and C Florentz},
url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11772011},
isbn = {11772011},
year = {2002},
date = {2002-01-01},
journal = {Biochemistry},
volume = {41},
number = {1},
pages = {144-150},
abstract = {More than 70 different point mutations in human mitochondrial tRNA genes are correlated with severe disorders, including fatal cardiopathies, encephalopathies, myopathies, and others. So far, investigation of the molecular impact(s) of mutations has focused on the affected tRNA itself by seeking structural and/or functional perturbations capable of interfering with synthesis of the 13 mitochondrion-encoded subunits of respiratory chain complexes. Here, a proteomic approach was used to investigate whether such mutations would affect the pattern of mitochondrial proteins at a broader level. Analysis of several hundred mitochondrial proteins from sibling cybrid cell lines by two-dimensional electrophoresis, an approach that takes into account all regulatory steps of mitochondrial and nuclear gene expression, indeed reveals a number of up- and downregulated proteins when healthy and single-point-mutation-carrying mitochondria representative of either MELAS or MERRF syndrome were compared. Assignment by mass spectrometry of the two proteins which exhibit obvious large quantitative decreases in the levels of both pathologic mitochondria identified nuclear-encoded subunits of cytochrome c oxidase, a respiratory chain complex. This clearly shows a linkage between the effects of mutations in mitochondrial tRNA genes and the steady-state level of nuclear-encoded proteins in mitochondria. It opens new routes toward a large-scale exploration of potential proteic partners involved in the genotype-phenotype correlation of mitochondrial disorders.},
note = {0006-2960
Journal Article},
keywords = {Amino Acid Sequence Cell Line Cell Nucleus/physiology Comparative Study DNA, FLORENTZ, Gel, Inborn/*metabolism Human Mitochondria/*metabolism Mitochondrial Proteins/*metabolism Molecular Sequence Data *Point Mutation Proteome RNA/*genetics RNA, Mitochondrial/physiology Electrophoresis, Non-U.S. Gov't, Transfer/*genetics Support, Two-Dimensional/methods Genetic Diseases, Unité ARN},
pubstate = {published},
tppubtype = {article}
}