ORESTES are enriched in rare exon usage variants affecting the encoded proteins

A significant fraction of the variability found in the human transcriptome is due to alternative splicing, including alternative exon usage (AEU), intron retention and use of cryptic splice sites. We present a comparison of a large-scale analysis of AEU in the human transcriptome through genome mapp...

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Veröffentlicht in:Comptes rendus. Biologies 2003-10, Vol.326 (10), p.979-985
Hauptverfasser: Sakabe, Noboru Jo, de Souza, Jorge E.S, Galante, Pedro A.F, de Oliveira, Paulo S.L, Passetti, Fábio, Brentani, Helena, Osório, Elisson C, Zaiats, André C, Leerkes, Maarten R, Kitajima, João Paulo, Brentani, Ricardo R, Strausberg, Robert L, Simpson, Andrew J.G, de Souza, Sandro José
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container_end_page 985
container_issue 10
container_start_page 979
container_title Comptes rendus. Biologies
container_volume 326
creator Sakabe, Noboru Jo
de Souza, Jorge E.S
Galante, Pedro A.F
de Oliveira, Paulo S.L
Passetti, Fábio
Brentani, Helena
Osório, Elisson C
Zaiats, André C
Leerkes, Maarten R
Kitajima, João Paulo
Brentani, Ricardo R
Strausberg, Robert L
Simpson, Andrew J.G
de Souza, Sandro José
description A significant fraction of the variability found in the human transcriptome is due to alternative splicing, including alternative exon usage (AEU), intron retention and use of cryptic splice sites. We present a comparison of a large-scale analysis of AEU in the human transcriptome through genome mapping of Open Reading Frame ESTs (ORESTES) and conventional ESTs. It is shown here that ORESTES probe low abundant messages more efficiently. In addition, most of the variants detected by ORESTES affect the structure of the corresponding proteins. To cite this article: N.J. Sakabe et al., C. R. Biologies 326 (2003). Une fraction significative de la variabilité du transcriptome humain observée est due au splicing alternatif, incluant l'utilisation alternative d'exon, la rétention d'intron et l'usage de sites cryptiques de splicing. Nous présentons une analyse à grande échelle de l'utilisation alternative d'exon dans le transcriptome humain, par le biais de la cartographie génomique d'étiquettes d'ADNc conventionnelles ou de phases ouvertes de lectures (ORESTES). Il est montré que les étiquettes ORESTES représentent plus efficacement les ARN messagers de faible abondance. De plus, la plupart des variants détectés à l'aide des étiquettes ORESTES affectent la structure des protéines correspondantes. Pour citer cet article : N.J. Sakabe et al., C. R. Biologies 326 (2003).
doi_str_mv 10.1016/j.crvi.2003.09.027
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source MEDLINE; Elsevier ScienceDirect Journals Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
subjects alternative exon usage
Alternative Splicing
bioinformatics
bioinformatique
cartographie génomique
Exons - genetics
genome mapping
Genome, Human
human transcriptome
Humans
Open Reading Frames - genetics
ORESTES
splicing alternatif
Transcription, Genetic
transcriptome humain
utilisation alternative d'exon
étiquettes ORESTES
title ORESTES are enriched in rare exon usage variants affecting the encoded proteins
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