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The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics
Author(s) -
Dorsett Dale
Publication year - 2016
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31490
Subject(s) - drosophila melanogaster , gene , biology , drosophila (subgenus) , genetics , genome , model organism , melanogaster , evolutionary biology , human genome , computational biology
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.