Scurfy, the Foxp3 Locus, and the Molecular Basis of Peripheral Tolerance View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2008

AUTHORS

M. W. Appleby , F. Ramsdell

ABSTRACT

The ability to rapidly and efficiently recognize and eliminate pathogens while sparing normal self tissue is a hallmark of the mammalian immune system. When it fails, however, autoimmune disease results. The genetic and environmental factors that control the process of making such distinctions, not to mention the specific targeted tissues, are extraordinarily complex in the human population; only now are we characterizing the candidate genes responsible for these responses to pathogens. The examination of specific traits in murine models of disease has led to the identification of many of the candidate genes for human disease. The study of mouse mutations (both induced and spontaneous) has also greatly advanced our understanding of the immune responses and autoimmune disease. Here, we describe the use of classical mouse genetics to identify one gene centrally involved in the control of immune responses. Furthermore, although mutations in the orthologous human gene result in a virtually identical phenotype to that seen in the mouse, it is unlikely that studying the human disease populations alone would have successfully identified this gene. Thus, despite the complete sequencing of the human and mouse genomes, the examination of murine mutations remains a powerful and unbiased tool to connect genotype and phenotype. More... »

PAGES

151-68

References to SciGraph publications

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  • Book

    TITLE

    Immunology, Phenotype First: How Mutations Have Established New Principles and Pathways in Immunology

    ISBN

    978-3-540-75202-8
    978-3-540-75203-5

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-3-540-75203-5_7

    DOI

    http://dx.doi.org/10.1007/978-3-540-75203-5_7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1006792138

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18727491


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