Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome

Nature Genetics

Volumn 16, Issue 1, 1997, Pages 28-36

  Smith, Desmond J ^a   Stevens, Mary E ^b   Sudanagunta, Sharmila P ^c   Bronson, Roderick T ^a   Makhinson, Michael ^b   Watabe, Ayako M ^c   O'Dell, Thomas J ^a   Fung, Jingly ^b   Weier, Heinz Ulrich G ^c   Cheng, Jan Fang ^a   Rubin, Edward M ^a,d  

^a LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^b TUFTS UNIVERSITY   (United States)

^c JACKSON LABORATORY   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

ANIMAL CELL; ARTICLE; CHROMOSOME 21Q; DNA DETERMINATION; DOWN SYNDROME; GENE LOCATION; GENE LOCUS; LEARNING; MEMORY; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; YEAST;

ANIMALIA; MUS MUSCULUS;

EID: 0030915187     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0597-28     Document Type: Article

References (48)

1. Lander, E.S. & Schork, N.J. Genetic dissection of complex traits. Science 265, 2037-2048(1994).
2. Vyse, TJ. & Todd, J.A. Genetic analysis of autoimmune disease. Cell 85. 311-318 (1996).
3. Dietrich, W.F. et al. A comprehensive genetic map of the mouse genome. Nature 380, 149-152(1996).
4. Dib, C et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380,152-154 (1996).
5. Epstein, CJ. The conceptual bases for the phenotypic mapping of conditions resulting from aneuploidy. Prog. Clin. Biol. Res. 384,1-18 (1993).
6. Korenberg, J.R. et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc WatJ. 4cad. Sci. USA 91,4997-5001 (1994).
7. Rahmani, Z. et al. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc. WatJ. Acad. Sci USA 86,5958-5962 (1989).
8. Reeves, R.H. et al. A mouse model for Down syndrome exhibits learning and behaviour defeats. Wature Genet 11,177-184(1995).
9. Smith, D.J., Zhu, Y., Zhang, J.-L, Cheng, J.-F. & Rubin, E.M. Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21q22.2. Genom;cs27,425-434 (1995).
10. Sicinski, P. etal. Cyclin D1 provides a link between development and oncogenesis in the retina and breast Cell 82,621-630 (1995).
11. Abeliovich, A. etal. PKCy mutant mice exhibit mild deficits in spatial and contextual learning. Cell 75,1263-1271 (1993).
12. Bowes, C et al. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phophodiesterase. Nature 347,677-680 (1990).
13. Pittler, SJ. & Baehr, W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphpdiesterase beta-subunit gene of the rd mouse. Proc. Natl.Acad. Sci. USA 88,8322-8326 (1991).
14. Sidman, R.L & Green, M.C. Retinal degeneration in the mouse. J. Hered. 56, 23-29 (1965).
15. Hsiao, K.K. etal. Age-related CN5 disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins. Neuron 15,1203-1218 (1995).
16. Bear, M.F. & Malenka, R.C. Synaptic plasticity: LTP and LTD. Curr. Op. Neurobiol. 4, 389-399(1994).
17. Bliss, T.V.P. & Collingridge, G.L A synaptic model of memory: long-term potentiation in the hippocampus. Wature 361,31-39 (1993).
18. Squire, LR. Memory and the hippocampus: a synthesis from findings with rat, monkeys and humans. Pscychol. Rev. 99,195-231 (1992).
19. Morris, R.G., Garrud, P., Rawlins, J.N. & O'Keefe, J. Place navigation impaired in rats with hippocampal lesions. Wature 297,681-683 (1982).
20. Abeliovich, A. etal. Modified hippocampal long-term potentiation in PKC|f-mutant mice. Cell 75,1253-1262 (1993).
21. Mayford, M., Wang, J., Kandel, E.R. & O'Dell, TJ. CaMKII regulates the frequencyresponse function of hippocampal synapses for the production of both LTD and LTP. Cell 81,891-904(1995).
22. Cheng, J.-F., Boyartchuk, V. & Zhu, Y. Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map. Genomics 23, 75-84(1994).
23. Guirema, J. et al. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum. Mol. Genet 5,1305-1310(1996).
24. Kentrup, H. et al. Dyrk, a dual specificity protein kinase with unique strucutural features whose activity is dependent on tyrosine residues between subdomains VII and VIII. J. Biol. Chem. 271,3488-3495 (1996).
25. Patil, N. et al. A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nature Genet 11,12&-129 (1995).
26. Peterson, A. et al. A transcript map of the Down syndrome critical region on chromosome 21. Hum. Mol. Genet 3,1735-1742 (1994).
27. Shindoh, N. et al. Cloning of a human homologue of the Drosophih Minioram/Rat Dyrk gene from "the Down syndrome critical region" of chromosome 21. Biochem. Biophys. Res. Comm. 225,92-99 (1996).
28. Song, W.-J. et al. Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region". Genomfe 38,331-339 (1996).
29. Tejedor, F.et al. minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila. Neuron 14,287-301 (1995).
30. Bauman, M.L, Kemper, T.L & Arin, D.M. Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome. Neurology 45,1581-1586 (1995).
31. Johnston, M.V., Hohmann, C & Blue, M.E. Neurobiology of Rett syndrome. Neuropediatria 26,119-122(1995).
32. Selemon, LD., Rajkowska, G. & Goldman-Rakic, P.S. Abnormally high neuronal density in the schizophrenic cortex. A morphometric analysis of prefrontal area 9 and occipital area M.Arch. Gen. Psychiatry 52,805-820(1995).
33. Busdglio, J. & Yankner, B.A. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 378,776-779 (1995).
34. Lupski, J.R., Roth, J.R. & Weinstock, G.M. Chromosomal duplications in bacteria, fruit flies, and humans. Am. J. Hum. Genet 58,21-27 (1996).
35. Schedl, A. et al. Influence of PAX6 gene dosage on development overexpression causes severe eye abnormalities. Cell86,71-82 (1996).
36. Herskowitz, I. Functional inactivation of genes by dominant negative mutations. Wature329,219-222 (1987).
37. Ohira, M. et al. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. Genome Res. 7,47-58 (1997).
38. GenomeNet WWW server. http//www.genome.ad.jpJ.
39. Sutherland, RJ., Kolb. B. & Whishaw, l.Q. Spatial mapping: definitive disruption by hippocampal or medial frontal cortical damge in the rat. Neurosci. Lett 31,271-276 (1982).
40. Chumakov. I. et al. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359,380-387 (1992).
41. GDB (Genome Database), http://gdbwww.gdb.orgJ.
42. Weier, H.-U. ef al. Generation of highly specific DNA hybridization probes for chromosome enumeration in human interphase cell nuclei: isolation and enzymatic synthesis of alpha satellite DNA probes for chromosome 10 by primer directed DNA amplification. Meth. Mol. Cell. Biol. 4,231-248 (1994).
43. Weier, H.-U.G. etal. Quantitative DNAfibermapping. Hum. Mol. Genet 4,1903-1910 (1995).
44. Morris, R.G.M. Spatial localization does not require the presence of local cues. Learning and Motiva tion 12,239-260 (1981).
45. Silva, AJ., Paylor, R., Wehner, J.M. & Tonegawa, S. Impaired spatial learning in ocalciunvcalmodulin kinase II mutant mice. Science 257,206-211(1992).
46. Nasir, J. et al. Targeted Disruption of the Huntington's disease gene results in embryonic lethality and behavioral and moprhological changes in hétérozygotes. Cell 81,811-623(1995).
47. Filippi, M., Tribioli, C. & Toniolo, D. Linkage and sequence conservation of the Xlinked genes DXS253E (P3) and DXS254E (GdX) in mouse and man. Genomics 7, 453-457(1990).
48. Toniolo, D., Persico, M. & Alcalay, M. A "housekeeping" gene on the X chromosome encodes a protein similar to ubiquitin. Proc. NatlAcad. Sci. USA 85,851-855 (1988).