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Citation
Dorsett, D. (2016). The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics.  Am. J. Med. Genet. C Semin. Med. Genet. 172(2): 129--137.
FlyBase ID
FBrf0232634
Publication Type
Review
Abstract

Discovery of genetic alterations that cause human birth defects provide key opportunities to improve the diagnosis, treatment, and family counseling. Frequently, however, these opportunities are limited by the lack of knowledge about the normal functions of the affected genes. In many cases, there is more information about the gene's orthologs in model organisms, including Drosophila melanogaster. Despite almost a billion years of evolutionary divergence, over three-quarters of genes linked to human diseases have Drosophila homologs. With a short generation time, a twenty-fold smaller genome, and unique genetic tools, the conserved functions of genes are often more easily elucidated in Drosophila than in other organisms. Here we present how this applies to Cornelia de Lange syndrome, as a model for how Drosophila can be used to increase understanding of genetic syndromes caused by mutations with broad effects on gene transcription and exploited to develop novel therapies. © 2016 Wiley Periodicals, Inc.

PubMed ID
PubMed Central ID
PMC5105159 (PMC) (EuropePMC)
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    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Am. J. Med. Genet. C Semin. Med. Genet.
    Title
    American journal of medical genetics. Part C, Seminars in medical genetics
    ISBN/ISSN
    1552-4868 1552-4876
    Data From Reference
    Genes (11)
    Human Disease Models (2)