Fol. Biol. 2016, 62, 139-147
https://doi.org/10.14712/fb2016062040139
Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia
References
1. , I., Kale, A., McCue, S., Glazier, S., Morgan, J. P., Hampton, T. G. (2005) Gait dynamics in mouse models of Parkinson’s disease and Huntington’s disease. J. Neuroeng. Rehabil. 2, 20.
<https://doi.org/10.1186/1743-0003-2-20>
2. , M., Cannata, S., Mercaldo, V., Gibello, L., Santoro, C., Dianzani, I., Loreni, F. (2007) Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum. Mol. Genet. 16, 1720-1727.
<https://doi.org/10.1093/hmg/ddm120>
3. , S. E., McGuckin, C. P., Jenkins, G., Gordon-Smith, E. C. (1996) Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br. J. Haematol. 94, 645-653.
<https://doi.org/10.1046/j.1365-2141.1996.d01-1839.x>
4. Bartley, J. M., Pan, S. J., Keilich, S. R., Hopkins, J. W., Al- Naggar, I. M., Kuchel, G. A., Haynes, L. (2016) Aging augments the impact of influenza respiratory tract infection on mobility impairments, muscle-localized inflammation, and muscle atrophy. Aging (Albany NY), Epub ahead of print.
5. , I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., Simansour, M., Dahl, N., Fröjmark, A. S., Pospisilova, D., Cmejla, R., Beggs, A. H., Sheen, M. R., Landowski, M., Buros, C. M., Clinton, C. M., Dobson, L. J., Vlachos, A., Atsidaftos, E., Lipton, J. M., Ellis, S. R., Ramenghi, U., Dianzani, I. (2010) The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31, 1269-1279.
<https://doi.org/10.1002/humu.21383>
6. , C. V., Koutouzis, T. K., Sanberg, P. R. (1997) 3-Nitropropionic acid animal model and Huntington’s disease. Neurosci. Biobehav. Rev. 21, 289-293.
<https://doi.org/10.1016/S0149-7634(96)00027-9>
7. , T., Brown, N. J., Stark, Z., Bruno, D. L., Oertel, R., Chong, B., Calabro, V., Kornberg, A., Sanderson, C., Kelly, J., Howell, K. B., Savarirayan, R., Hinds, R., Greenway, A., Slater, H. R., White, S. M. (2014) Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Am. J. Med. Genet. A 164A, 77-86.
<https://doi.org/10.1002/ajmg.a.36203>
8. , M. F., Garelli, E., Quarello, P., Carando, A., Varotto, S., Nobili, B., Longoni, D., Pecile, V., Zecca, M., Dufour, C., Ramenghi, U., Dianzan, I. (2004) Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica 89, 480-489.
9. , H., Bode, H., Gustavsson, P., Dahl, N., Kohne, E. (1999) A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 – Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation. Clin. Genet. 55, 487-492.
<https://doi.org/10.1034/j.1399-0004.1999.550616.x>
10. , N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet. 21, 169-175.
<https://doi.org/10.1038/5951>
11. , H. T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J. M., Ploszynska, A., Zaucha, J. M., Vlachos, A., Atsidaftos, E., Viskochil, D. H., Niemeyer, C. M., Meerpohl, J. J., Rokicka-Milewska, R., Pospisilova, D., Wiktor-Jedrzejczak, W., Nathan, D. G., Beggs, A. H., Sieff, C. A. (2004) RNA and protein evidence for haplo-insufficiency in Diamond- Blackfan anaemia patients with RPS19 mutations. Br. J. Haematol. 127, 105-113.
<https://doi.org/10.1111/j.1365-2141.2004.05152.x>
12. , G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. (2013) Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br. J. Haematol. 162, 530-536.
<https://doi.org/10.1111/bjh.12397>
13. , L. A., Aguissa-Toure, A. H., Pinaud, N., Legrand, P., Gleizes, P. E., Fribourg, S. (2007) Molecular basis of Diamond- Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res. 35, 5913-5921.
<https://doi.org/10.1093/nar/gkm626>
14. , P., Garelli, E., Draptchinskaia, N., Ball, S., Willig, T. N., Tentler, D., Dianzani, I., Punnett, H. H., Shafer, F. E., Cario, H., Ramenghi, U., Glomstein, A., Pfeiffer, R. A., Goringe, A., Olivieri, N. F., Smibert, E., Tchernia, G., Elinder, G., Dahl, N. (1998) Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 63, 1388-1395.
<https://doi.org/10.1086/302100>
15. , T. G., Kale, A., Amende, I., Tang, W., McCue, S., Bhagavan, H. N., VanDongen, C. G. (2011) Gait disturbances in dystrophic hamsters. J. Biomed. Biotechnol. 2011, 235354.
<https://doi.org/10.1155/2011/235354>
16. , K., Tan, J., Morris, M. B., Rizzoti, K., Hughes, J., Cheah, P. S., Felquer, F., Liu, X., Piltz, S., Lovell-Badge, R., Thomas, P. Q. (2012) Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice. PLoS One 7, e29041.
<https://doi.org/10.1371/journal.pone.0029041>
17. , C. H., Tallaksen-Greene, S., Chien, W. M., Cearley, J. A., Jackson, W. S., Crouse, A. B., Ren, S., Li, X. J., Albin, R. L., Detloff, P. J. (2001) Neurological abnormalities in a knock-in mouse model of Huntington’s disease. Hum. Mol. Genet. 10, 137-144.
<https://doi.org/10.1093/hmg/10.2.137>
18. Liu, Y. B., Tewari, A., Salameh, J., Arystarkhova, E., Hampton, T. G., Brashear, A., Ozelius, L. J., Khodakhah, K., Sweadner, K. J. (2015) A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β 1 subunit, Lamb1. eLife 4.
19. , D. J., Whishaw, I. Q., Miklyaeva, E. I., Pellis, S. M. (1996) Spatio-temporal impairments in limb and body movements during righting in an hemiparkinsonian rat analogue: relevance to axial apraxia in humans. Brain Res. 733, 253-262.
<https://doi.org/10.1016/0006-8993(96)00547-1>
20. , H., Davey, E. J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S., Dahl, N. (2004) Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol. Cell. Biol. 24, 4032-4037.
<https://doi.org/10.1128/MCB.24.9.4032-4037.2004>
21. , H., Davey, E. J., Frojmark, A. S., Miyake, K., Utsugisawa, T., Flygare, J., Zahou, E., Byman, I., Landin, B., Ronquist, G., Karlsson, S., Dahl, N. (2006) Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol. Dis. 36, 259-264.
<https://doi.org/10.1016/j.bcmd.2005.12.002>
22. , K. A., Mason, P. J. (2011) Animal models of Diamond Blackfan anemia. Semin. Hematol. 48, 106-116.
<https://doi.org/10.1053/j.seminhematol.2011.02.001>
23. , P. M., Higgins, L. S., Cordell, B., Moser, P. C. (1995) Age-related learning deficits in transgenic mice expressing the 751-amino acid isoform of human β-amyloid precursor protein. Proc. Natl. Acad. Sci. USA 92, 5341-5345.
<https://doi.org/10.1073/pnas.92.12.5341>
24. , A., Ebert, B. L. (2010) Ribosomopathies: human disorders of ribosome dysfunction. Blood 115, 3196-3205.
<https://doi.org/10.1182/blood-2009-10-178129>
25. , R., Hirotsune, S., Gambello, M. J., Yuva-Paylor, L., Crawley, J. N., Wynshaw-Boris, A. (1999) Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. Learn. Mem. 6, 521-537.
<https://doi.org/10.1101/lm.6.5.521>
26. , S. M., Pellis, V. C., Chen, Y. C., Barzci, S., Teitelbaum, P. (1989) Recovery from axial apraxia in the lateral hypothalamic labyrinthectomized rat reveals three elements of contact-righting: cephalocaudal dominance, axial rotation, and distal limb action. Behav. Brain Res. 35, 241-251.
<https://doi.org/10.1016/S0166-4328(89)80144-5>
27. , S. M., Pellis, V. C. (1994) Development of righting when falling from a bipedal standing posture: evidence for the dissociation of dynamic and static righting reflexes in rats. Physiol. Behav. 56, 659-663.
<https://doi.org/10.1016/0031-9384(94)90223-2>
28. , P., Garelli, E., Brusco, A., Carando, A., Pappi, P., Barberis, M., Coletti, V., Campagnoli, M. F., Dianzani, I., Ramenghi, U. (2008) Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency. Haematologica 93, 1748-1750.
<https://doi.org/10.3324/haematol.13423>
29. , S., Trompetto, C., Marinelli, L., Alibardi, A., Missori, P., Fattapposta, F., Pierelli, F., Curra, A. (2015) Balance dysfunction in Parkinson’s disease. Biomed. Res. Int. 2015, 434683.
<https://doi.org/10.1155/2015/434683>
30. , A. M., Zon, L. I. (2011) Modeling Diamond Blackfan anemia in the zebrafish. Semin. Hematol. 48, 81-88.
<https://doi.org/10.1053/j.seminhematol.2011.02.002>
31. , D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N. (2000) A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. J. Med. Genet. 37, 128-131.
<https://doi.org/10.1136/jmg.37.2.128>
32. , T., Box, N. (2013) Genetics of ribosomal proteins: “curiouser and curiouser”. PLoS Genet. 9, e1003300.
<https://doi.org/10.1371/journal.pgen.1003300>
33. , S., Mansfield, C., Jimenez-Moreno, R., Del Gaizo Moore, V., Yoshikawa, M., Hampton, T. G., Prevette, D., Caress, J., Oppenheim, R. W., Milligan, C. (2013a) Characterization of early pathogenesis in the SOD1(G93A) mouse model of ALS: part I, background and methods. Brain Behav. 3, 335-350.
<https://doi.org/10.1002/brb3.143>
34. , S., Mansfield, C., Jimenez-Moreno, R., Del Gaizo Moore, V., Yoshikawa, M., Hampton, T. G., Prevette, D., Caress, J., Oppenheim, R. W., Milligan, C. (2013b) Characterization of early pathogenesis in the SOD1(G93A) mouse model of ALS: part II, results and discussion. Brain Behav. 3, 431-457.
<https://doi.org/10.1002/brb3.142>
35. , D. E., Cooke, J., Pidsley, R., Edwards, A., Slotkin, R., Leeds, K. E., Mullen, R., Baxter, L. L., Campbell, T. G., Salzer, M. C., Biondini, L., Gibney, G., Phan Dinh Tuy, F., Chelly, J., Morris, H. D., Riegler, J., Lythgoe, M. F., Arkell, R. M., Loreni, F., Flint, J., Pavan, W. J., Keays, D. A. (2013) Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet. 9, e1003094.
<https://doi.org/10.1371/journal.pgen.1003094>
36. , T. N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Pérignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. (1999) Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood 94, 4294-4306.
37. , F., Wang, Z., Tchantchou, F., Chiu, C. T., Zhang, Y., Chuang, D. M. (2012) Lithium ameliorates neurodegeneration, suppresses neuroinflammation, and improves behavioral performance in a mouse model of traumatic brain injury. J. Neurotrauma 29, 362-374.
<https://doi.org/10.1089/neu.2011.1942>
38. , W., Yi, M. J., Chen, X., Cole, F., Krauss, R. S., Kang, J. S. (2006) Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDO. Mol. Cell. Biol. 26, 3764-3772.
<https://doi.org/10.1128/MCB.26.10.3764-3772.2006>
