STANDARD_NAME	STARK_HYPPOCAMPUS_22Q11_DELETION_DN
SYSTEMATIC_NAME	M17954
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/STARK_HYPPOCAMPUS_22Q11_DELETION_DN
NAMESPACE	AFFY_Mouse430
DESCRIPTION_BRIEF	Genes down-regulated in hyppocampus of mice carrying a hemizygotic microdeletion in the 22q11.2 region.
DESCRIPTION_FULL	Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. We analyzed an engineered mouse strain carrying a chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. We uncovered a previously unknown alteration in the biogenesis of microRNAs (miRNAs) and identified a subset of brain miRNAs affected by the microdeletion. We provide evidence that the abnormal miRNA biogenesis emerges because of haploinsufficiency of the Dgcr8 gene, which encodes an RNA-binding moiety of the 'microprocessor' complex and contributes to the behavioral and neuronal deficits associated with the 22q11.2 microdeletion.
PMID	18469815
GEOID	GSE10784
AUTHORS	Stark KL,Xu B,Bagchi A,Lai WS,Liu H,Hsu R,Wan X,Pavlidis P,Mills AA,Karayiorgou M,Gogos JA
CONTRIBUTOR	Jessica Robertson
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 1S: HPC down
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	1416821_at,1416822_at,1417629_at,1417839_at,1418087_at,1418701_at,1419732_at,1421809_at,1421810_at,1422547_at,1422977_at,1423061_at,1428190_at,1428739_at,1428753_a_at,1432367_a_at,1434244_x_at,1435439_at,1436241_s_at,1436468_at,1436796_at,1438255_at,1441391_at,1448114_a_at,1448115_at,1448849_at,1448900_at,1449097_at,1449183_at,1450855_at,1452357_at,1452434_s_at,1455311_at,1457675_at
GENE_SYMBOLS	ESS2,ESS2,PRODH,CLDN5,UFD1,COMT,RTN4R,DGCR2,DGCR2,RANBP1,GP1BB,ARVCF,SLC25A1,ENHO,DGCR6,UFD1,TRMT2A,DGCR8,HIRA,ZDHHC8,SNORA74A,FOXN3,,TRMT2A,TRMT2A,MRPL40,TANGO2,TXNRD2,COMT,ARVCF,GP1BB,DGCR6,DGCR8,C22orf39
FOUNDER_NAMES	
