A Novel Framework for the Identification and Analysis of Duplicons between Human and Chimpanzee.

Human and other primate genomes consist of many segmental duplications (SDs) due to fixation of copy number variations (CNVs). Structure of these duplications within the human genome has been shown to be a complex mosaic composed of juxtaposed subunits (called duplicons). These duplicons are difficu...

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Publicado en:BioMed Research International Vol. 2013; pp. 264532 - 264533
Autores principales: Chuang, Trees-Juen, Wu, Shian-Zu, Huang, Yao-Ting
Formato: research Journal Article
Publicado: Wiley-Blackwell 2013
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 2013
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        atl: A Novel Framework for the Identification and Analysis of Duplicons between Human and Chimpanzee.
      aug:
        au:
          Chuang, Trees-Juen
          Wu, Shian-Zu
          Huang, Yao-Ting
        affil: Genomics Research Center, Academia Sinica, Taipei, Taiwan.
      sug:
        subj:
          DNA
          Primates
          Animal Studies
          Chromosome Disorders
          Chromosomes
          Cluster Analysis
          Evolution
          Genetics
          Immunity
          Probability
          Sequence Analysis
      ab: Human and other primate genomes consist of many segmental duplications (SDs) due to fixation of copy number variations (CNVs). Structure of these duplications within the human genome has been shown to be a complex mosaic composed of juxtaposed subunits (called duplicons). These duplicons are difficult to be uncovered from the mosaic repeat structure. In addition, the distribution and evolution of duplicons among primates are still poorly investigated. In this paper, we develop a statistical framework for discovering duplicons via integration of a Hidden Markov Model (HMM) and a permutation test. Our comparative analysis indicates that the mosaic structure of duplicons is common in CNV/SD regions of both human and chimpanzee genomes, and a subset of core dupliconsis shared by the majority of CNVs/SDs. Phylogenetic analyses using duplicons suggested that most CNVs/SDs share common duplication ancestry. Many human/chimpanzee duplicons flank both ends of CNVs, which may be hotspots of nonallelic homologous recombination.
      pubtype: Academic Journal
      doctype:
        research
        Journal Article
      ougenre: Article
    language: English
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