Skip to main content
×
×
Home
  • Print publication year: 2014
  • Online publication date: October 2014

18 - Down syndrome

from Section 4 - Social dysfunction and mental retardation
Recommend this book

Email your librarian or administrator to recommend adding this book to your organisation's collection.

Behavioral Genetics of the Mouse
  • Online ISBN: 9781107360556
  • Book DOI: https://doi.org/10.1017/CBO9781107360556
Please enter your name
Please enter a valid email address
Who would you like to send this to *
×

References

Ahn, K.J., Jeong, H.K., Choi, H.S., et al. (2006) DYRK1A BAC transgenic mice show altered synaptic plasticity with learning and memory defects. Neurobiol Dis 22: 463–472.
Aldridge, K., Reeves, R.H., Olson, L.E., and Richtsmeier, J.T. (2007) Differential effects of trisomy on brain shape and volume in related aneuploid mouse models. Am J Med Genet A 143A: 1060–1070.
Altafaj, X., Dierssen, M., Baamonde, C., et al. (2001) Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down’s syndrome. Hum Mol Genet 10: 1915–1923.
Altafaj, X., Ortiz-Abalia, J., Fernandez, M., et al. (2008) Increased NR2A expression and prolonged decay of NMDA-induced calcium transient in cerebellum of TgDyrk1A mice, a mouse model of Down syndrome. Neurobiol Dis 32: 377–384.
Arque, G., Fotaki, V., Fernandez, D., et al. (2008) Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A). PLoS One 3: e2575.
Arron, J.R., Winslow, M.M., Polleri, A., et al. (2006) NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 441: 595–600.
Belichenko, N.P., Belichenko, P.V., Kleschevnikov, A.M., et al. (2009) The “Down syndrome critical region” is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. J Neurosci 29: 5938–5948.
Belichenko, P.V., Kleschevnikov, A.M., Salehi, A., Epstein, C.J., and Mobley, W.C. (2007) Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships. J Comp Neurol 504: 329–345.
Cataldo, A.M., Petanceska, S., Peterhoff, C.M., et al. (2003) App gene dosage modulates endosomal abnormalities of Alzheimer’s disease in a segmental trisomy 16 mouse model of Down syndrome. J Neurosci 23: 6788–6792.
Chang, Q. and Gold, P.E. (2008) Age-related changes in memory and in acetylcholine functions in the hippocampus in the Ts65Dn mouse, a model of Down syndrome. Neurobiol Learn Mem 89: 167–177.
Chrast, R., Scott, H.S., Madani, R., et al. (2000a) Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome. Hum Mol Genet 9: 1853–1864.
Chrast, R., Scott, H.S., Papasavvas, M.P., et al. (2000b) The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Res 10: 2006–2021.
Davisson, M.T., Schmidt, C., Reeves, R.H., et al. (1993) Segmental trisomy as a mouse model for Down syndrome. Prog Clin Biol Res 384: 117–133.
Deitz, S.L. and Roper, R.J. (2011) Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice. Genetics 189: 1487–1495.
Delabar, J.M., Theophile, D., Rahmani, Z., et al. (1993) Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1: 114–124.
Dierssen, M. (2012) Down syndrome: the brain in trisomic mode. Nat Rev Neurosci 13: 844–858.
Dierssen, M., Arque, G., McDonald, J., et al. (2011) Behavioral characterization of a mouse model overexpressing DSCR1/ RCAN1. PLoS One 6: e17010.
Dierssen, M., Benavides-Piccione, R., Martinez-Cue, C., et al. (2003) Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment. Cereb Cortex 13: 758–764.
Dierssen, M. and de Lagran, M.M. (2006) DYRK1A (dual-specificity tyrosine-phosphorylated and -regulated kinase 1A): a gene with dosage effect during development and neurogenesis. ScientificWorld J 6: 1911–1922.
Dierssen, M., Herault, Y., and Estivill, X. (2009) Aneuploidy: from a physiological mechanism of variance to Down syndrome. Physiol Rev 89: 887–920.
Down, J.L.H. (1986) Observations on an ethnic classification of idiots. Clinical Lecture Reports 3: 4.
Duchon, A., Pothion, S., Brault, V., et al. (2011) The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome. Behav Brain Res 217: 271–281.
Elton, T.S., Sansom, S.E., and Martin, M.M. (2010) Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins. RNA Biol 7: 540–547.
Escorihuela, R.M., Fernandez-Teruel, A., Vallina, I.F., et al. (1995) A behavioral assessment of Ts65Dn mice: a putative Down syndrome model. Neurosci Lett 199: 143–146.
Fernandez, F., Morishita, W., Zuniga, E., et al. (2007) Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci 10: 411–413.
Fisch, G.S. (2011) Mental retardation or intellectual disability? Time for a change. Am J Med Genet A.
Fotaki, V., Dierssen, M., Alcantara, S., et al. (2002) Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol 22: 6636–6647.
Fuentes, J.J., Genesca, L., Kingsbury, T.J., et al. (2000) DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet 9: 1681–1690.
Fuentes, J.J., Pritchard, M.A., Planas, A.M., et al. (1995) A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet 4: 1935–1944.
Galante, M., Jani, H., Vanes, L., et al. (2009) Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Hum Mol Genet 18: 1449–1463.
Gardiner, K., Herault, Y., Lott, I.T., et al. (2010) Down syndrome: from understanding the neurobiology to therapy. J Neurosci 30: 14943–14945.
Gockler, N., Jofre, G., Papadopoulos, C., et al. (2009) Harmine specifically inhibits protein kinase DYRK1A and interferes with neurite formation. FEBS J 276: 6324–6337.
Guedj, F., Pereira, P.L., Najas, S., et al. (2012) DYRK1A: a master regulatory protein controlling brain growth. Neurobiol Dis 46: 190–203.
Guedj, F., Sebrie, C., Rivals, I., et al. (2009) Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A. PLoS One 4: e4606.
Hammerle, B., Ulin, E., Guimera, J., et al. (2011) Transient expression of Mnb/Dyrk1a couples cell cycle exit and differentiation of neuronal precursors by inducing p27KIP1 expression and suppressing NOTCH signaling. Development 138: 2543–2554.
Harashima, C., Jacobowitz, D.M., Stoffel, M., et al. (2006) Elevated expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in cerebellar unipolar brush cells of a Down syndrome mouse model. Cell Mol Neurobiol 26: 719–734.
Hattori, M., Fujiyama, A., Taylor, T.D., et al. (2000) The DNA sequence of human chromosome 21. Nature 405: 311–319.
Heber, R. (1959) A manual on terminology and classification in mental retardation. Am J Ment Defic Suppl 64: 1–111.
Herault, Y., Duchon, A., Velot, E., Marechal, D., and Brault, V. (2012) The in vivo Down syndrome genomic library in mouse. Prog Brain Res 197: 169–197.
Hoeffer, C.A., Dey, A., Sachan, N., et al. (2007) The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling. J Neurosci 27: 13161–13172.
Ishihara, K., Amano, K., Takaki, E., et al. (2010) Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex 20: 1131–1143.
Kahlem, P., Sultan, M., Herwig, R., et al. (2004) Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down syndrome. Genome Res 14: 1258–1267.
Khoshnood, B., Greenlees, R., Loane, M., and Dolk, H. (2011) Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol 91: S16–S22.
Kleschevnikov, A.M., Belichenko, P.V., Villar, A.J., et al. (2004) Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. J Neurosci 24: 8153–8160.
Korbel, J.O., Tirosh-Wagner, T., Urban, A.E., et al. (2009) The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA 106: 12031–12036.
Korenberg, J.R., Chen, X.N., Schipper, R., et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91: 4997–5001.
Kuhn, D.E., Nuovo, G.J., Martin, M.M., et al. (2008) Human chromosome 21-derived miRNAs are overexpressed in Down syndrome brains and hearts. Biochem Biophys Res Comm 370: 473–477.
Kuhn, D.E., Nuovo, G.J., Terry, A.V., Jr., et al. (2010) Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human Down syndrome brains. J Biol Chem 285: 1529–1543.
Liu, C., Belichenko, P.V., Zhang, L., et al. (2011) Mouse models for Down syndrome-associated developmental cognitive disabilities. Dev Neurosci 33: 404–413.
Lott, I.T. and Dierssen, M. (2010) Cognitive deficits and associated neurological complications in individuals with Down’s syndrome. Lancet Neurol 9: 623–633.
Loudin, M.G., Wang, J., Eastwood Leung, H.C., et al. (2011) Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. Leukemia 25: 1555–1563.
Lyle, R., Bena, F., Gagos, S., et al. (2009) Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 17: 454–466.
Martinez de Lagran, M., Benavides-Piccione, R., Ballesteros-Yanez, I., et al. (2012) Dyrk1A influences neuronal morphogenesis through regulation of cytoskeletal dynamics in mammalian cortical neurons. Cereb Cortex 22: 2867–2877.
Mazur-Kolecka, B., Golabek, A., Kida, E., et al. (2012) Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice. J Neurosci Res 90: 999–1010.
Megarbane, A., Ravel, A., Mircher, C., et al. (2009) The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet Med 11: 611–616.
Menghini, D., Costanzo, F., and Vicari, S. (2011) Relationship between brain and cognitive processes in Down syndrome. Behav Genet 41: 381–393.
Morice, E., Andreae, L.C., Cooke, S.F., et al. (2008) Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learn Mem 15: 492–500.
Mouton-Liger, F., Thomas, S., Rattenbach, R., et al. (2011) PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca (2+)/calmodulin-dependent kinase II-delta activation in mouse models of Down syndrome. J Comp Neurol 519: 2779–2802.
Nambu, J.R., Lewis, J.O., Wharton, K.A., Jr., and Crews, S.T. (1991) The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development. Cell 67: 1157–1167.
O’Doherty, A., Ruf, S., Mulligan, C., et al. (2005) An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309: 2033–2037.
Oddo, S., Caccamo, A., Shepherd, J.D., et al. (2003) Triple-transgenic model of Alzheimer’s disease with plaques and tangles: intracellular A beta and synaptic dysfunction. Neuron 39: 409–421.
Olson, L.E., Richtsmeier, J.T., Leszl, J., and Reeves, R.H. (2004) A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science 306: 687–690.
Olson, L.E., Roper, R.J., Sengstaken, C.L., et al. (2007) Trisomy for the Down syndrome “critical region” is necessary but not sufficient for brain phenotypes of trisomic mice. Hum Mol Genet 16: 774–782.
Ortiz-Abalia, J., Sahun, I., Altafaj, X., et al. (2008) Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome. Am J Hum Genet 83: 479–488.
Parker, S.E., Mai, C.T., Canfield, M.A., et al. (2010) Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol 88: 1008–1016.
Pritchard, M.A. and Kola, I. (1999) The “gene dosage effect” hypothesis versus the “amplified developmental instability” hypothesis in Down syndrome. J Neural Transm Suppl 57: 293–303.
Rachidi, M., Lopes, C., Charron, G., et al. (2005) Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome. Int J Dev Neurosci 23: 475–484.
Reeves, R.H., Irving, N.G., Moran, T.H., et al. (1995) A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet 11: 177–184.
Reinholdt, L.G., Czechanski, A., Kamdar, S., et al. (2009) Meiotic behavior of aneuploid chromatin in mouse models of Down syndrome. Chromosoma 118: 723–736.
Reynolds, T. (2010) The triple test as a screening technique for Down syndrome: reliability and relevance. Int J Womens Health 2: 83–88.
Richardson, J.A. and Burns, D.K. (2002) Mouse models of Alzheimer’s disease: a quest for plaques and tangles. ILAR J 43: 89–99.
Rueda, N., Florez, J., and Martinez-Cue, C. (2008a) Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome. Neurosci Lett 433: 22–27.
Rueda, N., Florez, J., and Martinez-Cue, C. (2008b) Effects of chronic administration of SGS-111 during adulthood and during the pre- and post-natal periods on the cognitive deficits of Ts65Dn mice, a model of Down syndrome. Behav Brain Res 188: 355–367.
Sago, H., Carlson, E.J., Smith, D.J., et al. (1998) Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. Proc Natl Acad Sci USA 95: 6256–6261.
Salehi, A., Delcroix, J.D., Belichenko, P.V., et al. (2006) Increased App expression in a mouse model of Down’s syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron 51: 29–42.
Salehi, A., Faizi, M., Belichenko, P.V., and Mobley, W.C. (2007) Using mouse models to explore genotype-phenotype relationship in Down syndrome. Ment Retard Dev Disabil Res Rev 13: 207–214.
Salehi, A., Faizi, M., Colas, D., et al. (2009) Restoration of norepinephrinemodulated contextual memory in a mouse model of Down syndrome. Sci Transl Med 1: 7ra17.
Senti, K.A. and Brennecke, J. (2010) The piRNA pathway: a fly’s perspective on the guardian of the genome. Trends Genet 26: 499–509.
Shapiro, B.L. (1975) Amplified developmental instability in Down’s syndrome. Ann Hum Genet 38: 429–437.
Singh Sandhu, K., Li, G., Sung, W.K., and Ruan, Y. (2011) Chromatin interaction networks and higher order architectures of eukaryotic genomes. J Cell Biochem 112: 2218–2221.
Smith, D.J. and Rubin, E.M. (1997) Functional screening and complex traits: human 21q22.2 sequences affecting learning in mice. Hum Mol Genet 6: 1729–1733.
Smith, D.J., Stevens, M.E., Sudanagunta, S.P., et al. (1997) Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Nat Genet 16: 28–36.
Southwell, D.G., Froemke, R.C., Alvarez-Buylla, A., StrykerM.P., and Gandhi, S.P. (2010) Cortical plasticity induced by inhibitory neuron transplantation. Science 327: 1145–1148.
Tecott, L.H. (2003) The genes and brains of mice and men. Am J Psychiatry 160: 646–656.
Tejedor, F.J. and Hammerle, B. (2011) MNB/DYRK1A as a multiple regulator of neuronal development. FEBS J 278: 223–235.
Vilardell, M., Rasche, A., Thormann, A., et al. (2011) Meta-analysis of heterogeneous Down syndrome data reveals consistent genome-wide dosage effects related to neurological processes. BMC Genomics 12: 229.
Villar, A.J., Belichenko, P.V., Gillespie, A.M., et al. (2005) Identification and characterization of a new Down syndrome model, Ts[Rb (12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T (171)65Dn and mouse chromosome 12. Mamm Genome 16: 79–90.
Wei, P., Blundon, J.A., Rong, Y., Zakharenko, S.S., and Morgan, J.I. (2011) Impaired locomotor learning and altered cerebellar synaptic plasticity in pep-19/PCP4-null mice. Mol Cell Biol 31: 2838–2844.
Yabut, O., DomogauerJ., and D’Arcangelo, G. (2010) Dyrk1A overexpression inhibits proliferation and induces premature neuronal differentiation of neural progenitor cells. J Neurosci 30: 4004–4014.
Yu, T., Liu, C., Belichenko, P., et al. (2010) Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice. Brain Res 1366: 162–171.