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  1. Article ; Online: Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome.

    Mollet, I G / Ben-Dov, Claudia / Felício-Silva, Daniel / Grosso, A R / Eleutério, Pedro / Alves, Ruben / Staller, Ray / Silva, Tito Santos / Carmo-Fonseca, Maria

    Nucleic acids research

    2010  Volume 38, Issue 14, Page(s) 4740–4754

    Abstract: Mining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect ... ...

    Abstract Mining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect unannotated splice variants. A higher number of alternatively spliced genes and isoforms were found compared to other alternative splicing databases. Comparison of human and mouse data revealed a marked increase, in human, of splice variants incorporating novel exons and retained introns. Previously unannotated exons were validated by tiling array expression data and shown to correspond preferentially to novel first exons. Retained introns were validated by tiling array and deep sequencing data. The majority of retained introns were shorter than 500 nt and had weak polypyrimidine tracts. A subset of retained introns matching small RNAs and displaying a high GC content suggests a possible coordination between splicing regulation and production of noncoding RNAs. Conservation of unannotated exons and retained introns was higher in horse, dog and cow than in rodents, and 64% of exon sequences were only found in primates. This analysis highlights previously bypassed alternative splice variants, which may be crucial to deciphering more complex pathways of gene regulation in human.
    MeSH term(s) Algorithms ; Alternative Splicing ; Animals ; Base Composition ; Base Sequence ; Conserved Sequence ; Data Mining ; Exons ; Gene Expression Profiling ; Genomics/methods ; Humans ; Introns ; Mice ; Oligonucleotide Array Sequence Analysis ; Protein Isoforms/genetics ; RNA, Messenger/chemistry ; RNA, Untranslated/metabolism ; Sequence Alignment
    Chemical Substances Protein Isoforms ; RNA, Messenger ; RNA, Untranslated
    Language English
    Publishing date 2010-04-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkq197
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome

    Mollet, I.G / Ben-Dov, Claudia / Felício-Silva, Daniel / Grosso, A.R / Eleutério, Pedro / Alves, Ruben / Staller, Ray / Silva, Tito Santos / Carmo-Fonseca, Maria

    Nucleic acids research. 2010 Aug., v. 38, no. 14

    2010  

    Abstract: Mining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect ... ...

    Abstract Mining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect unannotated splice variants. A higher number of alternatively spliced genes and isoforms were found compared to other alternative splicing databases. Comparison of human and mouse data revealed a marked increase, in human, of splice variants incorporating novel exons and retained introns. Previously unannotated exons were validated by tiling array expression data and shown to correspond preferentially to novel first exons. Retained introns were validated by tiling array and deep sequencing data. The majority of retained introns were shorter than 500 nt and had weak polypyrimidine tracts. A subset of retained introns matching small RNAs and displaying a high GC content suggests a possible coordination between splicing regulation and production of noncoding RNAs. Conservation of unannotated exons and retained introns was higher in horse, dog and cow than in rodents, and 64% of exon sequences were only found in primates. This analysis highlights previously bypassed alternative splice variants, which may be crucial to deciphering more complex pathways of gene regulation in human.
    Keywords Primates ; algorithms ; alternative splicing ; cows ; databases ; dogs ; exons ; gene expression ; genes ; genome mining ; high-throughput nucleotide sequencing ; horses ; humans ; introns ; mice ; non-coding RNA ; transcriptome
    Language English
    Dates of publication 2010-08
    Size p. 4740-4754.
    Document type Article
    ZDB-ID 186809-3
    ISSN 0301-5610 ; 0305-1048
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkq197
    Database NAL-Catalogue (AGRICOLA)

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