Human Gene Set: STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP

For the Mouse gene set with the same name, see STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP

Standard name STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP
Systematic name M2817
Brief description Genes up-regulated in prefrontal cortex (PFC) of mice carrying a hemizygotic microdeletion in the 22q11.2 region.
Full description or abstract 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.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18469815   Authors: Stark KL,Xu B,Bagchi A,Lai WS,Liu H,Hsu R,Wan X,Pavlidis P,Mills AA,Karayiorgou M,Gogos JA
Exact source Table 1S: PFC up
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Source species Mus musculus
Contributed by Jessica Robertson (MSigDB Team)
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identifier namespace		 AFFY_Mouse430
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Version history 3.0: First introduced

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