Article abstract


Nature Genetics 40, 751 - 760 (2008)
Published online: 11 May 2008 | doi:10.1038/ng.138

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

Kimberly L Stark1,6, Bin Xu2,6, Anindya Bagchi3, Wen-Sung Lai2, Hui Liu1, Ruby Hsu4, Xiang Wan5, Paul Pavlidis5, Alea A Mills3, Maria Karayiorgou1 & Joseph A Gogos2,4


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.

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  1. Department of Psychiatry, College of Physicians and Surgeons, Columbia University, 1051 Riverside Drive, New York, New York 10032, USA.
  2. Department of Physiology and Cellular Biophysics, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, New York 10032, USA.
  3. Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA.
  4. Department of Neuroscience, College of Physicians and Surgeons, Columbia University, 1051 Riverside Drive, New York, New York 10032, USA.
  5. Department of Psychiatry and Bioinformatics Centre, University of British Columbia, 2185 East Mall, Vancouver, British Columbia V6T 1Z4, Canada.
  6. These authors contributed equally to this work.

Correspondence to: Maria Karayiorgou1 e-mail: mk2758@columbia.edu

Correspondence to: Joseph A Gogos2,4 e-mail: jag90@columbia.edu




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