| First Author | Stark KL | Year | 2008 |
| Journal | Nat Genet | Volume | 40 |
| Issue | 6 | Pages | 751-60 |
| PubMed ID | 18469815 | Mgi Jnum | J:136969 |
| Mgi Id | MGI:3797444 | Doi | 10.1038/ng.138 |
| Citation | Stark KL, et al. (2008) Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet 40(6):751-60 |
| abstractText | 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. |
