Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
10.1038/ng.138
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., & Gogos, J. A. (2008). Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nature Genetics, 40(6), 751–760.

Authors 11
  1. Kimberly L Stark (first)
  2. Bin Xu (additional)
  3. Anindya Bagchi (additional)
  4. Wen-Sung Lai (additional)
  5. Hui Liu (additional)
  6. Ruby Hsu (additional)
  7. Xiang Wan (additional)
  8. Paul Pavlidis (additional)
  9. Alea A Mills (additional)
  10. Maria Karayiorgou (additional)
  11. Joseph A Gogos (additional)
References 50 Referenced 510
  1. Botto, L.D. et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112, 101–107 (2003). (10.1542/peds.112.1.101) / Pediatrics by LD Botto (2003)
  2. McDonald-McGinn, D.M. et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet. Med. 3, 23–29 (2001). (10.1097/00125817-200101000-00006) / Genet. Med. by DM McDonald-McGinn (2001)
  3. Edelmann, L., Pandita, R.K. & Morrow, B.E. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet. 64, 1076–1086 (1999). (10.1086/302343) / Am. J. Hum. Genet. by L Edelmann (1999)
  4. Woodin, M. et al. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet. Med. 3, 34–39 (2001). (10.1097/00125817-200101000-00008) / Genet. Med. by M Woodin (2001)
  5. Gothelf, D. et al. Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 126, 116–121 (2004). (10.1002/ajmg.b.20144) / Am. J. Med. Genet. B. Neuropsychiatr. Genet. by D Gothelf (2004)
  6. Gothelf, D. et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 126, 99–105 (2004). (10.1002/ajmg.b.20124) / Am. J. Med. Genet. B. Neuropsychiatr. Genet. by D Gothelf (2004)
  7. Marshall, C.R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008). (10.1016/j.ajhg.2007.12.009) / Am. J. Hum. Genet. by CR Marshall (2008)
  8. Green, M.F. et al. Approaching a consensus cognitive battery for clinical trials in schizophrenia: the NIMH-MATRICS conference to select cognitive domains and test criteria. Biol. Psychiatry 56, 301–307 (2004). (10.1016/j.biopsych.2004.06.023) / Biol. Psychiatry by MF Green (2004)
  9. Sobin, C. et al. Neuropsychological characteristics of children with the 22q11 deletion syndrome: a descriptive analysis. Child Neuropsychol. 11, 39–53 (2005). (10.1080/09297040590911167) / Child Neuropsychol. by C Sobin (2005)
  10. Pulver, A.E. et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J. Nerv. Ment. Dis. 182, 476–478 (1994). (10.1097/00005053-199408000-00010) / J. Nerv. Ment. Dis. by AE Pulver (1994)
  11. Karayiorgou, M. et al. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl. Acad. Sci. USA 92, 7612–7616 (1995). (10.1073/pnas.92.17.7612) / Proc. Natl. Acad. Sci. USA by M Karayiorgou (1995)
  12. Gothelf, D. et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci. 8, 1500–1502 (2005). (10.1038/nn1572) / Nat. Neurosci. by D Gothelf (2005)
  13. Liu, H. et al. Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc. Natl. Acad. Sci. USA 99, 16859–16864 (2002). (10.1073/pnas.232186099) / Proc. Natl. Acad. Sci. USA by H Liu (2002)
  14. Liu, H. et al. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc. Natl. Acad. Sci. USA 99, 3717–3722 (2002). (10.1073/pnas.042700699) / Proc. Natl. Acad. Sci. USA by H Liu (2002)
  15. Mukai, J. et al. Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia. Nat. Genet. 36, 725–731 (2004). (10.1038/ng1375) / Nat. Genet. by J Mukai (2004)
  16. Paterlini, M. et al. Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat. Neurosci. 8, 1586–1594 (2005). (10.1038/nn1562) / Nat. Neurosci. by M Paterlini (2005)
  17. Raux, G. et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum. Mol. Genet. 16, 83–91 (2007). (10.1093/hmg/ddl443) / Hum. Mol. Genet. by G Raux (2007)
  18. Williams, N.M. et al. Strong evidence that GNB1L is associated with schizophrenia. Hum. Mol. Genet. 17, 555–566 (2008). (10.1093/hmg/ddm330) / Hum. Mol. Genet. by NM Williams (2008)
  19. Swerdlow, N.R., Geyer, M.A. & Braff, D.L. Neural circuit regulation of prepulse inhibition of startle in the rat: current knowledge and future challenges. Psychopharmacology (Berl.) 156, 194–215 (2001). (10.1007/s002130100799) / Psychopharmacology (Berl.) by NR Swerdlow (2001)
  20. Gogos, J.A. et al. The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat. Genet. 21, 434–439 (1999). (10.1038/7777) / Nat. Genet. by JA Gogos (1999)
  21. Kimber, W.L. et al. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Hum. Mol. Genet. 8, 2229–2237 (1999). (10.1093/hmg/8.12.2229) / Hum. Mol. Genet. by WL Kimber (1999)
  22. Paylor, R. et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc. Natl. Acad. Sci. USA 103, 7729–7734 (2006). (10.1073/pnas.0600206103) / Proc. Natl. Acad. Sci. USA by R Paylor (2006)
  23. Lindsay, E.A. et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401, 379–383 (1999). / Nature by EA Lindsay (1999)
  24. Merscher, S. et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104, 619–629 (2001). (10.1016/S0092-8674(01)00247-1) / Cell by S Merscher (2001)
  25. Zheng, B., Mills, A.A. & Bradley, A. A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Res. 27, 2354–2360 (1999). (10.1093/nar/27.11.2354) / Nucleic Acids Res. by B Zheng (1999)
  26. Long, J.M. et al. Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics 7, 247–257 (2006). (10.1007/s10048-006-0054-0) / Neurogenetics by JM Long (2006)
  27. Paylor, R. et al. Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum. Mol. Genet. 10, 2645–2650 (2001). (10.1093/hmg/10.23.2645) / Hum. Mol. Genet. by R Paylor (2001)
  28. Phillips, R.G. & LeDoux, J.E. Differential contribution of amygdala and hippocampus to cued and contextual fear conditioning. Behav. Neurosci. 106, 274–285 (1992). (10.1037/0735-7044.106.2.274) / Behav. Neurosci. by RG Phillips (1992)
  29. Koike, H., Arguello, P.A., Kvajo, M., Karayiorgou, M. & Gogos, J.A. Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice. Proc. Natl. Acad. Sci. USA 103, 3693–3697 (2006). (10.1073/pnas.0511189103) / Proc. Natl. Acad. Sci. USA by H Koike (2006)
  30. Jones, M.W. & Wilson, M.A. Theta rhythms coordinate hippocampal-prefrontal interactions in a spatial memory task. PLoS Biol. 3, e402 (2005). (10.1371/journal.pbio.0030402) / PLoS Biol. by MW Jones (2005)
  31. Kellendonk, C. et al. Transient and selective overexpression of dopamine D2 receptors in the striatum causes persistent abnormalities in prefrontal cortex functioning. Neuron 49, 603–615 (2006). (10.1016/j.neuron.2006.01.023) / Neuron by C Kellendonk (2006)
  32. Jurata, L.W. et al. Altered expression of hippocampal dentate granule neuron genes in a mouse model of human 22q11 deletion syndrome. Schizophr. Res. 88, 251–259 (2006). (10.1016/j.schres.2006.07.017) / Schizophr. Res. by LW Jurata (2006)
  33. Meechan, D. et al. Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol. Cell. Neurosci. 33, 412–428 (2006). (10.1016/j.mcn.2006.09.001) / Mol. Cell. Neurosci. by D Meechan (2006)
  34. Sivagnanasundaram, S. et al. Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia. Brain Res. 1139, 48–59 (2007). (10.1016/j.brainres.2007.01.014) / Brain Res. by S Sivagnanasundaram (2007)
  35. Seitz, H. et al. A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain. Genome Res. 14, 1741–1748 (2004). (10.1101/gr.2743304) / Genome Res. by H Seitz (2004)
  36. Tomari, Y. & Zamore, P.D. MicroRNA biogenesis: drosha can't cut it without a partner. Curr. Biol. 15, R61–R64 (2005). (10.1016/j.cub.2004.12.057) / Curr. Biol. by Y Tomari (2005)
  37. Wheeler, G., Ntounia-Fousara, S., Granda, B., Rathjen, T. & Dalmay, T. Identification of new central nervous system specific mouse microRNAs. FEBS Lett. 580, 2195–2200 (2006). (10.1016/j.febslet.2006.03.019) / FEBS Lett. by G Wheeler (2006)
  38. Kosik, K.S. The neuronal microRNA system. Nat. Rev. Neurosci. 7, 911–920 (2006). (10.1038/nrn2037) / Nat. Rev. Neurosci. by KS Kosik (2006)
  39. Lewis, B.P., Shih, I.H., Jones-Rhoades, M.W., Bartel, D.P. & Burge, C.B. Prediction of mammalian microRNA targets. Cell 115, 787–798 (2003). (10.1016/S0092-8674(03)01018-3) / Cell by BP Lewis (2003)
  40. Krek, A. et al. Combinatorial microRNA target predictions. Nat. Genet. 37, 495–500 (2005). (10.1038/ng1536) / Nat. Genet. by A Krek (2005)
  41. Paylor, R. & Crawley, J.N. Inbred strain differences in prepulse inhibition of the mouse startle response. Psychopharmacology (Berl.) 132, 169–180 (1997). (10.1007/s002130050333) / Psychopharmacology (Berl.) by R Paylor (1997)
  42. Schratt, G.M. et al. A brain-specific microRNA regulates dendritic spine development. Nature 439, 283–289 erratum 441, 902 (2006). (10.1038/nature04367) / Nature by GM Schratt (2006)
  43. Feng, G. et al. Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP. Neuron 28, 41–51 (2000). (10.1016/S0896-6273(00)00084-2) / Neuron by G Feng (2000)
  44. Matsuzaki, M., Honkura, N., Ellis-Davies, G.C. & Kasai, H. Structural basis of long-term potentiation in single dendritic spines. Nature 429, 761–766 (2004). (10.1038/nature02617) / Nature by M Matsuzaki (2004)
  45. Arguello, P.A. & Gogos, J.A. Modeling madness in mice: one piece at a time. Neuron 52, 179–196 (2006). (10.1016/j.neuron.2006.09.023) / Neuron by PA Arguello (2006)
  46. Wang, Y., Medvid, R., Melton, C., Jaenisch, R. & Blelloch, R. DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal. Nat. Genet. 39, 380–385 (2007). (10.1038/ng1969) / Nat. Genet. by Y Wang (2007)
  47. Zhao, Y. et al. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1–2. Cell 129, 303–317 (2007). (10.1016/j.cell.2007.03.030) / Cell by Y Zhao (2007)
  48. Doench, J.G., Petersen, C.P. & Sharp, P.A. siRNAs can function as miRNAs. Genes Dev. 17, 438–442 (2003). (10.1101/gad.1064703) / Genes Dev. by JG Doench (2003)
  49. Ashraf, S.I., McLoon, A.L., Sclarsic, S.M. & Kunes, S. Synaptic protein synthesis associated with memory is regulated by the RISC pathway in Drosophila. Cell 124, 191–205 (2006). (10.1016/j.cell.2005.12.017) / Cell by SI Ashraf (2006)
  50. Caudy, A.A., Myers, M., Hannon, G.J. & Hammond, S.M. Fragile X-related protein and VIG associate with the RNA interference machinery. Genes Dev. 16, 2491–2496 (2002). (10.1101/gad.1025202) / Genes Dev. by AA Caudy (2002)
Dates
Type When
Created 17 years, 3 months ago (May 11, 2008, 2:43 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:44 p.m.)
Indexed 3 days, 9 hours ago (Aug. 27, 2025, 12:34 p.m.)
Issued 17 years, 3 months ago (May 11, 2008)
Published 17 years, 3 months ago (May 11, 2008)
Published Online 17 years, 3 months ago (May 11, 2008)
Published Print 17 years, 2 months ago (June 1, 2008)
Funders 0

None

@article{Stark_2008, title={Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model}, volume={40}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng.138}, DOI={10.1038/ng.138}, number={6}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Stark, Kimberly L and Xu, Bin and Bagchi, Anindya and Lai, Wen-Sung and Liu, Hui and Hsu, Ruby and Wan, Xiang and Pavlidis, Paul and Mills, Alea A and Karayiorgou, Maria and Gogos, Joseph A}, year={2008}, month=may, pages={751–760} }