title: What fruit flies can tell us about human birth defects.
abstract: Many times, when a human genetic disease is mapped to mutations in a specific gene, little is known about the biological functions of the affected gene. Development of new therapeutic methods is facilitated by understanding the gene's biological roles. Such information can often be obtained in animal models, such as the fruit fly. Here we describe how understanding a gene's function in fruit flies has illuminated the etiology of Cornelia de Lange syndrome.
authors.affiliation: Edward A. Doisy Biochemistry and Molecular Biology Department, Saint Louis University School of Medicine, USA. dorsettd@slu.edu
authors.forename: Dale
authors.initials: D
authors.lastname: Dorsett
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D003635:De Lange Syndrome / Q000235:genetics*; D004330:Drosophila / Q000235:genetics*; D036281:Genetic Research / Q000266:history; D049674:History, 21st Century; D006801:Humans; D023421:Models, Animal; D011506:Proteins / Q000235:genetics* / Q000266:history
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins