The Drosophila homolog of Down's syndrome critical region 1 gene regulates learning: Implications for mental retardation
Copyright policy )The Drosophila homolog of Down's syndrome critical region 1 gene regulates learning: Implications for mental retardation
Mental retardation is the most common phenotypic abnormality seen in Down's syndrome (DS) patients, yet the underlying mechanism remains mysterious. DS critical region 1 (DSCR1), located on chromosome 21, is overexpressed in the brain of DS fetus and encodes an inhibitor of calcineurin, but its physiological significance is unknown. To study its functional importance and role in mental retardation in DS, we generated Drosophila mutants of nebula , an ortholog of human DSCR1. Here, we report that both nebula loss-of-function and overexpression mutants exhibit severe learning defects that are attributed by biochemical perturbations rather than maldevelopment of the brain. These results, combined with our data showing that the same biochemical signaling pathway is altered in human DS fetal brain tissue overexpressing DSCR1, suggest that alteration of DSCR1 expression could contribute to mental retardation in DS.
- National Institute of Health Pakistan
- National Institutes of Health United States
- UNIST (Ulsan National Institute of Science and Technology) Korea (Republic of)
- National Institute of Neurological Disorders and Stroke United States
EXPRESSION, 572, Chromosomes, Human, Pair 21, Muscle Proteins, Animals, Genetically Modified, Memory, Animals, Humans, Learning, INHIBITS CALCINEURIN, DSCR1, DEPENDENT PROTEIN-KINASE, STRIATED-MUSCLES, MELANOGASTER, Electroshock, IDENTIFICATION, Intracellular Signaling Peptides and Proteins, DNA-Binding Proteins, Smell, Disease Models, Animal, Mifepristone, LONG-TERM-MEMORY, Gene Expression Regulation, MUSHROOM BODIES, Mutation, Conditioning, Operant, Drosophila, Down Syndrome, SYSTEM
EXPRESSION, 572, Chromosomes, Human, Pair 21, Muscle Proteins, Animals, Genetically Modified, Memory, Animals, Humans, Learning, INHIBITS CALCINEURIN, DSCR1, DEPENDENT PROTEIN-KINASE, STRIATED-MUSCLES, MELANOGASTER, Electroshock, IDENTIFICATION, Intracellular Signaling Peptides and Proteins, DNA-Binding Proteins, Smell, Disease Models, Animal, Mifepristone, LONG-TERM-MEMORY, Gene Expression Regulation, MUSHROOM BODIES, Mutation, Conditioning, Operant, Drosophila, Down Syndrome, SYSTEM
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