Copy number variation in the genomes of domestic animals

  • A. Clop
    Department of Medical and Molecular Genetics King's College London Great Maze Pond SE1 9RT London UK
  • O. Vidal
    Departament de Biologia Universitat de Girona Girona 17071 Spain
  • M. Amills
    Departament de Genètica Animal Centre de Recerca en Agrigenòmica (CRAG) Universitat Autònoma de Barcelona Bellaterra 08193 Spain

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<jats:title>Summary</jats:title><jats:p>Copy number variation (<jats:styled-content style="fixed-case">CNV</jats:styled-content>) might be one of the main contributors to phenotypic diversity and evolutionary adaptation in animals and plants, employing a wide variety of mechanisms, such as gene dosage and transcript structure alterations, to modulate organismal plasticity. In the past 4 years, considerable advances have been made in the characterization of the genomic architecture of <jats:styled-content style="fixed-case">CNV</jats:styled-content> in domestic species. First, low‐resolution <jats:styled-content style="fixed-case">CNV</jats:styled-content> maps were produced for cattle, goat, sheep, pig, dog, chicken, duck and turkey, showing that these structural polymorphisms comprise a significant part of these genomes. Furthermore, <jats:styled-content style="fixed-case">CNV</jats:styled-content>s have been associated with several pigmentation (white coat in horse, pig and sheep) and morphological (late feathering and pea comb in chicken) traits, as well as with susceptibility to a wide array of diseases and developmental disorders, for example osteopetrosis, anhidrotic ectodermal dysplasia, copper toxicosis, intersexuality, cone degeneration, periodic fever and dermoid sinus, among others. In the future, development of high‐resolution tools for <jats:styled-content style="fixed-case">CNV</jats:styled-content> detection and typing combined with the implementation of databases integrating <jats:styled-content style="fixed-case">CNV</jats:styled-content>,<jats:styled-content style="fixed-case"> QTL</jats:styled-content> and gene expression data will be essential to identify and measure the impact of this source of structural variation on the many phenotypes that are relevant to animal breeders and veterinary practitioners.</jats:p>

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