Estructura del genoma Authors Tomàs Marquès i Bonet Lluís Armengol Abstract Every mammalian genome is an unstable and highly dynamic structure and therefore subjected to the strict evaluation of natural selection. In the last decades, we have changed our vocabulary and we have been using genomics instead of genetics, mainly because of the revolution on our research techniques. In the way of the understanding of the genomes, we realized how important repeats are and their role in the evolution of the structure of the human genome and how this structure and different functions are related. We have seen for instance that besides of the variation caused for SNPs (Single Nucleotide Polymorphism), the mammals (and specifically humans) are highly structural variant. The study of SVs (Structural Variant regions) and CNPs (Copy Number Polymorphisms) has allowed us to see that changes in structure have important consequences, from genomic diseases to simply affecting genes and its expression and hence, being responsible of the huge phenotypical variability observed among individuals. In this chapter, we will give our view on the structure and dynamism of the genome, from an evolutionary point of view, covering human polymorphism and diseases. Downloads Download data is not yet available. Downloads Text complet (Català) Published 2009-04-22 Issue 60, 2009 : Cent cinquanta anys després de "L'origen de les espècies", de Darwin / Arcadi Navarro i Carmen Segarra, editors Section Articles License The intellectual property of the articles belongs to the respective authors. At the time of submitting the articles to Treballs de la Societat Catalana de Biologia, authors accept the following terms: — Authors assign to the SCB (a subsidiary of the Institut d’Estudis Catalans) the rights of reproduction, public communication (including communication through social networks) and distribution of the articles submitted for publication to Treballs de la Societat Catalana de Biologia, in any form and medium, including digital platforms. The Publications Committee reserves the right to accept or refuse submitted articles and the right to make any editorial changes it deems appropriate. If the suggested changes are accepted by authors, they should re-submit the article with such changes. — Authors answer to the SCB for the authorship and originality of submitted articles. In other words, authors assure that submitted articles do not contain fragments of works by other authors or fragments of their own previously published works; that the content of articles is original, and that the copyright of third parties is not infringed upon. Authors accept this responsibility and undertake to hold harmless the SCB for any loss or damage resulting from non-compliance with this obligation. Furthermore, they should include a statement in articles submitted to the journal regarding their responsibility for the content of the articles. — Authors are responsible for obtaining permission for the reproduction of all graphic material included in articles, and they should moreover ensure that images, videos, etc., have been created with the consent of the individuals appearing in them, and that material belonging to third parties is clearly identified and acknowledged as such within the text. Likewise, authors should provide the respective consents and authorisations to the SCB when submitting articles. — The SCB is exempt from any liability arising from the possible infringement of intellectual property rights by authors. In all cases, it undertakes to publish corrections, clarifications, retractions and apologies, if necessary. — Unless otherwise stated in the text or in the graphic material, the contents published in the journal are subject to an Attribution - NonCommercial - NoDerivs 3.0 Spain (by-nc-nd) license from Creative Commons, the full text of which may be consulted at https://creativecommons.org/licenses/by-nc-nd/3.0/es/deed.en. Therefore, the general public is authorised to reproduce, distribute and communicate articles as long as their authorship and publishing entity are acknowledged, and no commercial use is made of them nor derivative work produced from them. — The journal is not responsible for the ideas and opinions expressed by the authors of published articles.
