[1] Agarwala, K.L., Ganesh, S., Suzuki, T., Akagi, T., Kaneko, K., Amano, K., Tsutsumi, Y., Yamaguchi, K., Hashikawa, T., and Yamakawa, K. (2001). Dscam is associated with axonal and dendritic features of neuronal cells.
J Neurosci Res 66, 337–346 .11746351
[2] Agarwala, K.L., Nakamura, S., Tsutsumi, Y., and Yamakawa, K. (2000). Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion.
Brain Res Mol Brain Res 79, 118–126 .10925149
[3] Amano, K., Fujii, M., Arata, S., Tojima, T., Ogawa, M., Morita, N., Shimohata, A., Furuichi, T., Itohara, S., Kamiguchi, H.,
(2009). DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death.
J Neurosci 29, 2984–2996 .19261893
[4] Barlow, G.M., Lyons, G.E., Richardson, J.A., Sarnat, H.B., and Korenberg, J.R. (2002a). DSCAM: an endogenous promoter drives expression in the developing CNS and neural crest.
Biochem Biophys Res Commun 299, 1–6 .12435380
[5] Barlow, G.M., Micales, B., Chen, X.N., Lyons, G.E., and Korenberg, J.R. (2002b). Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum?
Biochem Biophys Res Commun 293, 881–891 .12051741
[6] Basel-Vanagaite, L., Straussberg, R., Friez, M.J., Inbar, D., Korenreich, L., Shohat, M., and Schwartz, C.E. (2006). Expanding the phenotypic spectrum of L1CAM-associated disease.
Clin Genet 69, 414–419 .16650080
[7] Bertolin, C., Boaretto, F., Barbon, G., Salviati, L., Lapi, E., Divizia, M.T., Garavelli, L., Occhi, G., Vazza, G., and Mostacciuolo, M.L. (2010). Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
J Neurol Sci 294, 124–126 .20447653
[8] Brites, D., McTaggart, S., Morris, K., Anderson, J., Thomas, K., Colson, I., Fabbro, T., Little, T.J., Ebert, D., and Du Pasquier, L. (2008). The Dscam homologue of the crustacean Daphnia is diversified by alternative splicing like in insects.
Mol Biol Evol 25, 1429–1439 .18403399
[9] Del Bigio, M.R. (2010). Ependymal cells: biology and pathology.
Acta Neuropathol 119, 55–73 .20024659
[10] Frankin, K.B.J., and Paxinos, G. (1997). The mouse brain in stereotaxic coordinates.
New York:
Academic.
[11] Fuerst, P.G., Bruce, F., Tian, M., Wei, W., Elstrott, J., Feller, M.B., Erskine, L., Singer, J.H., and Burgess, R.W. (2009). DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina.
Neuron 64, 484–497 .19945391
[12] Fuerst, P.G., Koizumi, A., Masland, R.H., and Burgess, R.W. (2008). Neurite arborization and mosaic spacing in the mouse retina require DSCAM.
Nature 451, 470–474 .18216855
[13] Hattori, D., Demir, E., Kim, H.W., Viragh, E., Zipursky, S.L., and Dickson, B.J. (2007). Dscam diversity is essential for neuronal wiring and self-recognition.
Nature 449, 223–227 .17851526
[14] Haverkamp, F., W?lfle, J., Aretz, M., Kr?mer, A., H?hmann, B., Fahnenstich, H., and Zerres, K. (1999). Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.
Eur J Pediatr 158, 474–478 .10378395
[15] Hughes, M.E., Bortnick, R., Tsubouchi, A., B?umer, P., Kondo, M., Uemura, T., and Schmucker, D. (2007). Homophilic Dscam interactions control complex dendrite morphogenesis.
Neuron 54, 417–427 .17481395
[16] Hummel, T., Vasconcelos, M.L., Clemens, J.C., Fishilevich, Y., Vosshall, L.B., and Zipursky, S.L. (2003). Axonal targeting of olfactory receptor neurons in Drosophila is controlled by Dscam.
Neuron 37, 221–231 .12546818
[17] Jackson, S.R., Guner, Y.S., Woo, R., Randolph, L.M., Ford, H., and Shin, C.E. (2009). L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease.
Pediatr Surg Int 25, 823–825 .19641926
[18] Jones, B.J., and Roberts, D.J. (1968). The quantiative measurement of motor inco-ordination in naive mice using an acelerating rotarod.
J Pharm Pharmacol 20, 302–304 .4384609
[19] Jouet, M., Rosenthal, A., MacFarlane, J., Kenwrick, S., and Donnai, D. (1993). A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
. Nat Genet 4, 331.8401576
[20] Liebau, M.C., Gal, A., Superti-Furga, A., Omran, H., and Pohl, M. (2007). L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Pediatr Nephrol 22, 1058–1061 .17294222
[21] Liu, G., Li, W., Wang, L., Kar, A., Guan, K.L., Rao, Y., and Wu, J.Y. (2009). DSCAM functions as a netrin receptor in commissural axon pathfinding.
Proc Natl Acad Sci U S A 106, 2951–2956 .19196994
[22] Ly, A., Nikolaev, A., Suresh, G., Zheng, Y., Tessier-Lavigne, M., and Stein, E. (2008). DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1.
Cell 133, 1241–1254 .18585357
[23] Matthews, B.J., Kim, M.E., Flanagan, J.J., Hattori, D., Clemens, J.C., Zipursky, S.L., and Grueber, W.B. (2007). Dendrite self-avoidance is controlled by Dscam.
Cell 129, 593–604 .17482551
[24] Meijers, R., Puettmann-Holgado, R., Skiniotis, G., Liu, J.H., Walz, T., Wang, J.H., and Schmucker, D. (2007). Structural basis of Dscam isoform specificity.
Nature 449, 487–491 .17721508
[25] Nakamura, Y., Lee, S., Haddox, C.L., Weaver, E.J., and Lemmon, V.P. (2010). Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.
J Comp Neurol 518, 1113–1132 .20127821
[26] Sch?fer, M.K., and Altevogt, P. (2010). L1CAM malfunction in the nervous system and human carcinomas.
Cell Mol Life Sci 67, 2425–2437 .20237819
[27] Schmucker, D., Clemens, J.C., Shu, H., Worby, C.A., Xiao, J., Muda, M., Dixon, J.E., and Zipursky, S.L. (2000). Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity.
Cell 101, 671–684 .10892653
[28] Soba, P., Zhu, S., Emoto, K., Younger, S., Yang, S.J., Yu, H.H., Lee, T., Jan, L.Y., and Jan, Y.N. (2007). Drosophila sensory neurons require Dscam for dendritic self-avoidance and proper dendritic field organization.
Neuron 54, 403–416 .17481394
[29] Tapanes-Castillo, A., Weaver, E.J., Smith, R.P., Kamei, Y., Caspary, T., Hamilton-Nelson, K.L., Slifer, S.H., Martin, E.R., Bixby, J.L., and Lemmon, V.P. (2010). A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
Neurogenetics 11, 53–71 .19565280
[30] Vos, Y.J., and Hofstra, R.M. (2010). An updated and upgraded L1CAM mutation database.
Hum Mutat 31, E1102–E1109 .19953645
[31] Wang, J., Zugates, C.T., Liang, I.H., Lee, C.H., and Lee, T. (2002). Drosophila Dscam is required for divergent segregation of sister branches and suppresses ectopic bifurcation of axons.
Neuron 33, 559–571 .11856530
[32] Wilson, P.L., Kattman, B.B., Mulvihill, J.J., Li, S., Wilkins, J., Wagner, A.F., and Goodman, J.R. (2009). Prenatal identification of a novel R937P L1CAM missense mutation.
Genet Test Mol Biomarkers 13, 515–519 .19594370
[33] Wojtowicz, W.M., Flanagan, J.J., Millard, S.S., Zipursky, S.L., and Clemens, J.C. (2004). Alternative splicing of Drosophila Dscam generates axon guidance receptors that exhibit isoform-specific homophilic binding.
Cell 118, 619–633 .15339666
[34] Wojtowicz, W.M., Wu, W., Andre, I., Qian, B., Baker, D., and Zipursky, S.L. (2007). A vast repertoire of Dscam binding specificities arises from modular interactions of variable Ig domains.
Cell 130, 1134–1145 .17889655
[35] Yamakawa, K., Huot, Y.K., Haendelt, M.A., Hubert, R., Chen, X.N., Lyons, G.E., and Korenberg, J.R. (1998). DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.
Hum Mol Genet 7, 227–237 .9426258
[36] Zhang, J., Williams, M.A., and Rigamonti, D. (2006). Genetics of human hydrocephalus.
J Neurol 253, 1255–1266 .16773266
PDF(440 KB)
), Yan Shen1, Qi Xu1(
AI Summary
