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      Modeling human disease in rodents by CRISPR/Cas9 genome editing

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      Author(s): 1 , , 1 , 2 , 3 , 4 , 5 , 1
      Publication date (Electronic):
      Journal: Mammalian Genome
      Publisher: Springer US

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          Abstract

          Modeling human disease has proven to be a challenge for the scientific community. For years, generating an animal model was complicated and restricted to very few species. With the rise of CRISPR/Cas9, it is now possible to generate more or less any animal model. In this review, we will show how this technology is and will change our way to obtain relevant disease animal models and how it should impact human health.

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          Structural variation in the human genome.

          Lars Feuk, Andrew R. Carson, Stephen W Scherer (2006)
          The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome. This comprises microscopic and, more commonly, submicroscopic variants, which include deletions, duplications and large-scale copy-number variants - collectively termed copy-number variants or copy-number polymorphisms - as well as insertions, inversions and translocations. Rapidly accumulating evidence indicates that structural variants can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility.
          Article 0 comments Cited 639 times – based on 0 reviews     Review now
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            Association between microdeletion and microduplication at 16p11.2 and autism.

            Lauren A Weiss, Yiping Shen, Joshua M. Korn … (2008)
            Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role. As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children's Hospital Boston and in a large population study in Iceland. Among the AGRE families, we observed five instances of a de novo deletion of 593 kb on chromosome 16p11.2. Using comparative genomic hybridization, we observed the identical deletion in 5 of 512 children referred to Children's Hospital Boston for developmental delay, mental retardation, or suspected autism spectrum disorder, as well as in 3 of 299 persons with autism in an Icelandic population; the deletion was also carried by 2 of 18,834 unscreened Icelandic control subjects. The reciprocal duplication of this region occurred in 7 affected persons in AGRE families and 4 of the 512 children from Children's Hospital Boston. The duplication also appeared to be a high-penetrance risk factor. We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations. Copyright 2008 Massachusetts Medical Society.
            Article 0 comments Cited 467 times – based on 0 reviews     Review now
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              Copy number variation: new insights in genome diversity.

              Jennifer L R Freeman, George H Perry, Lars Feuk … (2006)
              DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases.
              Article 0 comments Cited 252 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Marie-Christine Birling: birlingm@igbmc.fr
                Journal
                Journal ID (nlm-ta): Mamm Genome
                Journal ID (iso-abbrev): Mamm. Genome
                Title: Mammalian Genome
                Publisher: Springer US (New York )
                ISSN (Print): 0938-8990
                ISSN (Electronic): 1432-1777
                Publication date (Electronic): 4 July 2017
                Publication date PMC-release: 4 July 2017
                Publication date (Print): 2017
                Volume: 28
                Issue: 7
                Pages: 291-301
                Affiliations
                [1 ]ISNI 0000 0001 2157 9291, GRID grid.11843.3f, CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, , University of Strasbourg, ; 1 rue Laurent Fries, 67404 Illkirch, France
                [2 ]ISNI 0000 0001 2157 9291, GRID grid.11843.3f, Institut de Génétique et de Biologie Moléculaire et Cellulaire, , Université de Strasbourg, ; 1 rue Laurent Fries, 67404 Illkirch, France
                [3 ]ISNI 0000 0001 2112 9282, GRID grid.4444.0, , Centre National de la Recherche Scientifique, ; UMR7104, Illkirch, France
                [4 ]Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France
                [5 ]ISNI 0000 0001 2157 9291, GRID grid.11843.3f, , Université de Strasbourg, ; 1 rue Laurent Fries, 67404 Illkirch, France
                Article
                Publisher ID: 9703
                DOI: 10.1007/s00335-017-9703-x
                PMC ID: 5569124
                PubMed ID: 28677007
                SO-VID: 5c71e399-1b21-4569-a178-d21e00488f85
                Copyright © © The Author(s) 2017
                License:

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

                History
                Date received : 28 March 2017
                Date accepted : 21 June 2017
                Categories
                Subject: Article
                Custom metadata
                issue-copyright-statement © Springer Science+Business Media, LLC 2017

                ScienceOpen disciplines: Genetics
                Data availability:
                ScienceOpen disciplines: Genetics

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