Differential gene expression studies to explore the molecular pathophysiology of Down syndrome.
Trisomy 21, which causes Down syndrome, is the model human disorder due to the presence of a supernumerary chromosome. The completion of the sequence of chromosome 21 and the development of appropriate animal models now provide the molecular infrastructure and the reagents to elucidate the molecular mechanisms of the different phenotypes of Down syndrome. The study of the overexpression of single genes, and the dysregulation of global gene expression will enhance the understanding of the pathogenesis of the cognitive impairment of this syndrome.
Antonarakis
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Division of Medical Genetics, University of Geneva Medical School, Centre Medical Universitaire, 1 rue Michel-Servet, 1211, Geneva, Switzerland. stylianos.antonarakis@medicine.unige.ch
Lyle
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Chrast
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Scott
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D000818:Animals; D001483:Base Sequence / Q000502:physiology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004195:Disease Models, Animal; D004314:Down Syndrome / Q000235:genetics* / Q000503:physiopathology*; D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D006801:Humans; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000002:abnormalities / Q000235:genetics / Q000378:metabolism; D010641:Phenotype