Reference Report

Reference
Citation	Chang, K.T., Shi, Y.J., Min, K.T. (2003). The Drosophila homolog of Down's syndrome critical region 1 gene regulates learning: implications for mental retardation. Proc. Natl. Acad. Sci. U.S.A. 100(26): 15794--15799. (Export to RIS)
FlyBase ID	FBrf0168008
Publication Type	Research paper
PubMed ID	14668437
PubMed Abstract	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.
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Proc. Natl. Acad. Sci. U.S.A.
Title	Proceedings of the National Academy of Sciences of the United States of America
Publication Year	1915-
ISBN/ISSN	0027-8424
Data from Reference
Alleles (9)
	Scer\GAL4^Act5C.PI Scer\GAL4^c739 Scer\GAL4^elav.PLu Scer\GAL4^{elav.Switch.PO} Scer\GAL4^hs.PB sra¹ sra² sra^PJ sra^Scer\UAS.cCa
Constructs (5)
	P{Act5C-GAL4} P{elav-Switch.O} P{GAL4-elav.L} P{GAL4-Hsp70.PB} P{UAS-sra.C}
Genes (4)
	Fas2 Jra Scer\GAL4 sra
Insertions (5)
	P{GAL4-elav.L}3E P{GawB}Hr39^c739 P{lacZ}sra¹ P{UAS-sra.C}t1 P{UAS-sra.C}t2