DSCAM: A novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 227-237

  Yamakawa, Kazuhiro ^a   Huo, Yong Kang ^a   Haendel, Melissa A ^b   Hubert, René ^a   Chen, Xiao Ning ^a   Lyons, Gary E ^b   Korenberg, Julie R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBRONECTIN; IMMUNOGLOBULIN; ISOPROTEIN; MESSENGER RNA; NERVE CELL ADHESION MOLECULE;

ALTERNATIVE RNA SPLICING; ANIMAL TISSUE; ARTICLE; BRAIN; BRAIN CORTEX; CHROMOSOME 21Q; CONTROLLED STUDY; DOWN SYNDROME; EMBRYO; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; MEDULLA OBLONGATA; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST; NEURAL TUBE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SPINAL CORD; TISSUE DISTRIBUTION;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, NORTHERN; BRAIN; CELL DIFFERENTIATION; CHROMOSOMES, HUMAN, PAIR 21; DNA, COMPLEMENTARY; DOWN SYNDROME; EMBRYONIC AND FETAL DEVELOPMENT; FETAL PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MEMBRANE PROTEINS; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, INBRED DBA; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NERVOUS SYSTEM; PROTEIN BIOSYNTHESIS; PROTEINS; RNA SPLICING; SPECIES SPECIFICITY;

ANIMALIA;

EID: 0031964775     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.227     Document Type: Article

References (74)

1. Epstein, C.J. (1986) Developmental genetics. Experientia, 42, 1117-1128.
2. Epstein, C.J., Korenberg, J.R., Anneren, G., Antonarakis, S.E., Ayme, S., Courchesne, E., Epstein, L.B., Fowler, A., Groner, Y., Huret, J.L., Kemper, T.L., Lott, I.T., Lubin, B.H., Magenis, E., Optiz, J.M., Patterson, D., Priest, J.H., Pueschel, S.M., Rapoport, S.I., Sinet, P.M., Tanzi, R.E. and de la Cruz, F. (1991) Protocols to establish genotype-phenotype correlations in Down syndrome. Am. J. Hum. Genet., 49, 207-235.
3. Jacobs, P., Baikie, A., Court-Brown, W. and Strong, J. (1959) The somatic chromosomes in mongolism. Lancet, I. 710-711.
4. Lejeune, J., Gautier, M. and Turpin, R. (1959) Etude des chromosomes somatiques de neuf enfants mongoliens. C. R. Acad. Sci. Paris, 248, 1721-1722.
5. Korenberg, J.R., Bradley, C. and Disteche, C.M. (1992) Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am. J. Hum. Genet., 50, 294-302.
6. Korenberg, J.R., Chen, X.N., Schipper, R., Sun, Z., Gonsky, R., Gerwer, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J.M., Hugdins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J.P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S. and Yamanaka, T. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc. Natl Acad. Sci. USA, 91, 4997-5001.
7. Delabar, J.M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J.L., Prieur, M., Noel, B. and Sinet, P.M. (1993) Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet., 1, 114-24.
8. Golden, J.A. and Hyman, B.T. (1994) Development of the superior temporal neocortex is anomalous in trisomy 21. J. Neurnpathol. Exp. Neurol., 53, 513-520.
9. Becker, L.E., Mito, T. Takashima, S., Onodera, K. and Friend, W.C. (1993) Association of phenolypic abnormalities of Down syndrome with an imbalance of genes on chromosome 21. APMIS, suppl. 40, 101, 57-70.
10. Raz, N., Torres, I.J., Briggs, S.D., Spencer, W.D., Thornton, A.E., Loken, W.J., Gunning, F.M., McQuain, J.D., Driesen, N.R. and Acker, J.D. (1995) Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry. Neurology, 45, 356-366.
11. Bodian, M. and Carter, C.O. (1963) A family study of Hirschsprung's disease. Ann. Hum. Genet., 26, 261-277.
12. Badner, J. A., Sieber, W.K., Garver, K.L. and Chakravarti, A. (1990) A genetic study of Hirschsprung disease. Am. J. Hum. Genet., 46, 568-580.
13. Edery, P., Lyonnet, S., Mulligan, L.M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul-Fekete, C., Ponder, B.A. and Munnich, A. (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 378-80.
14. Puffenberger, E.G., Hosoda, K., Washington, S.S., Nakao, K., deWit, D., Yanagisawa, M. and Chakravarti, A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell, 79, 1257-1266.
15. Edery, P., Attie, T., Amiel, J., Pelet, A., Eng, C., Hofstra, R.M.W., Martelli, H., Bidaud, C., Munnich, A. and Lyonnet, S. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet., 12, 442-444.
16. Hofstra, R.M.W., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsleeg, E.J., Stulp, R.P., van Ravenswaaji-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C. and Buys, C.H.C.M. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet., 12, 445-447.
17. Puffenberger, E.G., Kauffman, E.R., Bolk, S., Matise, C., Washington, S.S., Angrist, M., Weissenbach, J., Garver, K.L., Mascari, M., Ladda, R., Slaugenhaupt, A. and Chakravani, A. (1994) Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol. Genet., 3, 1217-1225.
18. Hubert, R., Mitchell, S., Chen, X.N., Ekmekji, K., Gadomski, C., Sun, Z., Noya, D., Kim, U.J., Chen, C., Shizuya, H., Lyons, G., Simon, M., de Jong, P.J. and Korenberg, J.R. (1997) BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21. Genomics. 41, 218-226.
19. Yamakawa, K., Mitchell, S., Hubert, R., Chen, X.-N., Colbern, S., Huo, Y.-K., Gadomski, C., Kim, U.-J. and Korenberg. J.R. (1995) Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum. Mol. Genet., 4, 709-716.
20. Yamakawa, K., Gao, D.Q. and Korenberg, J.R. (1996) A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. Cytogenet. Cell Genet., 74, 140-145.
21. Buckler, A.J., Chang, D.D., Graw, S.L., Brook, J.D., Haber, D.A., Sharp, P.A. and Housman, D.E. (1991) Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl Acad. Sci. USA, 88, 4005-4009.
22. Church, D.M., Stotler, C.J., Rutter, J.L., Murrell, J.R., Trofatter, J.A. and Buckler, A.J. (1994) Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet., 6, 98-105.
23. Korenberg, J.R., Chen, X.N., Mitchell, S., Fannin, S., Gerwehr, S., Cohen, D. and Chumakov, I. (1995) A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes. Genome Res., 5, 427-443.
24. Gardiner, K., Graw, S., Ichikawa, H., Ohki, M., Joetham, A., Gervy, P., Chumakov, I. and Patterson, D. (1995) YAC analysis and minimal tiling path construction for chromosome 21 q. Somat. Cell Mol. Genet., 21, 399-414.
25. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
26. Moos, M., Tacke, R., Scherer, H., Teplow, D., Fruh, K. and Schachner, M. (1988) Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin. Nature, 334, 701-703.
27. Yoshihara, Y., Kawasaki, M., Tani, A., Tamada, A., Nagata, S., Kagamiyama, H. and Mori, K. (1994) BIG-1: a new TAG-1/F3-related member of the immunoglobulin superfamily with neurite outgrowth-promoting activity. Neuron, 13, 415-426.
28. Yoshihara, Y., Kawasaki, M., Tamada, A., Nagata, S., Kagamiyama, H. and Mori, K. (1995) Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. J. Neurobiol. 28, 51-69.
29. Fearon, E.R., Cho, K.R., Nigro, J.M., Kern, S.E., Simons, J.W., Ruppert, J.M., Hamilton, S.R., Preisinger, A.C., Thomas, G., Kinzler, K.W. and Vogelstein, B. (1990) Identification of a chromosome 18q gene that is altered in colorectal cancers. Science, 247, 49-56.
30. Pearson, W.R. and Lipman, D.J. (1988) Improved tools for biological sequence comparison. Proc. Natl Acad. Sci. USA, 85, 2444-2448.
31. Hofmann, K. and Stoffel, W. (1993) TMBASE - a database of membrane spanning protein segments. Biol. Chem. Hoppe-Seyler, 374, 166.
32. Kakizuka, A., Sebastian, B., Borgmeyer, U., Hermans-Borgmeyer, I., Bolado, J., Hunter, T., Hoekstra, M.F. and Evans, R.M. (1992) A mouse cdc25 homolog is differentially and developmentally expressed. Genes Dev., 6, 578-590.
33. O'Neill, E.M., Ellis, M.C., Rubin, G.M. and Tjian, R. (1995) Functional domain analysis of glass, a zinc-finger-containing transcription factor in Drosophila. Proc. Natl Acad. Sci. USA, 92, 6557-6561.
34. Evans, C.J., Keith, D.E., Jr, Morrison, H., Magendzo, K. and Edwards, R.H. (1992) Cloning of a delta opioid receptor by functional expression. Science, 258, 1952-1955.
35. Jackson, I. (1991) A reappraisal of non-consensus mRNA splice sites. Nucleic Acids Res., 19, 3795-3798.
36. Altman, J. and Bayer, S.A. (1995) Atlas of Prenatal Rat Brain Development. CRC Press, Ann Arbor. MI.
37. Leber, S.M. and Sane, J.R. (1995) Migratory paths of neurons and glia in the embryonic spinal cord. J. Neurosci., 15, 1236-1248.
38. 3 injection. J. Comp. Neurol., 116, 325-347.
39. Vielmetter, J., Chen, X.N., Miskevich, F., Lane, R.P., Yamakawa, K., Korenberg, J.R. and Dreyer, W.J. (1997) Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3-q23. Genomics. 41, 414-421.
40. Ranscht, B. (1988) Sequence of contactin, a 130-kD glycoprotein concentrated in areas of intemeuronal contact, defines a new member of the immunoglobulin supergene family in the nervous system. J. Cell Biol., 107, 1561-1573.
41. Edelman, G.M. and Crossin, K.L. (1991) Cell adhesion molecules: implications for a molecular histology. Annu. Rev. Biochem., 60, 155-190.
42. Walsh, F.S. and Doherty, P. (1993) Factors regulating the expression and function of calcium-independent cell adhesion molecules. Curr. Opin. Cell Biol., 5, 791-796.
43. Tessier-Lavigne, M. and Goodman, C.S. (1996) The molecular biology of axon guidance. Science, 274, 1123-1133.
44. Schuster, C.M., Davis, G.W., Fetter, R.D. and Goodman, C.S. (1996) Genetic dissection of structural and functional components of synaptic plasticity. I. Fasciclin II controls synaptic stabilization and growth. Neuron, 17, 641-654.
45. Schuster, C.M., Davis, G.W., Fetter, R.D. and Goodman, C.S. (1996) Genetic dissection of structural and functional components of synaptic plasticity. II. Fasciclin II controls presynaptic structural plasticity. Neuron, 17, 655-667.
46. Mauro, V.P., Krushel, L.A., Cunningham, B.A. and Edelman, G.M. (1992) Homophilic and heterophilic binding activities of Nr-CAM, a nervous system cell adhesion molecule. J. Cell Biol., 119, 191-202.
47. Milev, P., Maurel, P., Haring, M., Margolis, R.K. and Margolis, R.U. (1996) TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/proteintyrosine phosphatase-zeta/beta, and N-CAM. J. Biol. Chem., 271, 15716-15723.
48. Grumet, M., Friedlander, D.R. and Edelman, G.M. (1993) Evidence for the binding of Ng-CAM to laminin. Cell Adheshion Commun., 1, 177-190.
49. Taira, E., Takaha, N., Taniura, H., Kim, C.H. and Miki, N. (1994) Molecular cloning and functional expression of gicerin, a novel cell adhesion molecule that binds to neurite outgrowth factor. Neuron, 12, 861-872.
50. Zisch, A.H., D'Alessandri, L., Ranscht, B., Falchetto, R., Winterhalter K.H. and Vaughan L. (1992) Neuronal cell adheshion molecule contactin/F11 binds to tenascin via its immunoglobulin-like domains. J. Cell Biol., 119, 203-213.
51. Keino-Masu, K., Masu, M., Hinck, L., Leonardo, E.D., Chan, S.S.Y., Culotti, J.G. and Tessier-Lavigne, M. (1996) Deleted in colorectal cancer (DCC) encodes a netrin receptor. Cell, 87, 175-185.
52. Cunningham, B.A., Hemperly, J.J., Murray, B.A., Prediger, E.A., Brackenbury, R. and Edelman, G.M. (1987) Neural cell adhesion molecule: structure, immunoglobulin-like domains, cell surface modulation, and alternative RNA splicing. Science, 236, 799-806.
53. Figarella-Branger, D., Pellissier, J.F., Bianco, N., Pons, F., Leger, J.J. and Rougon, G. (1992) Expression of various NCAM isoforms in human embryonic muscles: correlation with myosin heavy chain phenotypes. J. Neuropathol. Exp. Neurol., 51, 12-23.
54. Jouet, M., Rosenthal, A. and Kenwrick, S. (1995) Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells. Brain Res. Mol. Brain Res., 30, 378-380.
55. Connelly, M.A., Grady, R.C., Mushinski, J.F. and Marcu, K.B. (1994) PANG, a gene encoding a neuronal glycoprotein, is ectopically activated by intracisternal A-type particle long terminal repeats in murine plasmacytomas. Proc. Natl Acad. Sci. USA, 91, 1337-1341.
56. Rosenthal, A., Jouet, M. and Kenwrick, S. (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet., 2, 107-112.
57. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V, Temple, K. and Kenwrick, S. (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet., 7, 402-407.
58. Niebuhr, E. (1974) Down's syndrome: the possiblity of a pathogenic segment on chromosome no. 21. Humangenetik, 21, 99-101.
59. Reeves, R.H., Irving, N.G., Moran, T.H., Wohn, A., Kitt, C., Sisodia, S.S., Schmidt, C., Bronson, R.T. and Davisson M.T. (1995) A mouse model for Down syndrome exhibits learning and behavior deficits. Nature Genet., 11, 177-183.
60. Holtzman, D.M., Santucci, D., Kilbridge, J., Chua-Couzens, J., Fontana, D.J., Daniels, S.E., Johnson, R.M., Chen, K., Sun, Y., Carlson, E., Alleva, E., Epstein, C.J. and Mobley, W.C. (1996) Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome. Proc. Natl Acad. Sci. USA, 93, 13333-13338.
61. Garver, K.L., Law, J.C. and Garver, B. (1985) Hirschsprung disease: a genetic study. Clin. Genet., 28,503-508.
62. Passarge, E. (1967) The genetics of Hirschsprung's disease: evidence for heterogeneous etioiogy and a study of sixty-three families. New Engl. J. Med., 276, 138-143.
63. Hoffman, S. and Edelman, G.M. (1983) Kinetics of homophilic binding by embryonic and adult forms of the neural cell adhesion molecule. Proc. Natl Acad. Sci. USA, 80, 5762-5766.
64. Sadoul, M., Hirn, M., Deagostini-Bazin, H., Rougon, G. and Goridis, C. (1983) Adult and embryonic mouse neural cell adhesion molecules have different binding properties. Nature, 304, 347-349.
65. Grumet, M. and Edelman, G.M. (1988) Neuron-glia cell adhesion molecule interacts with neurons and astroglia via different binding mechanisms. J. Cell Biol., 106, 487-503.
66. Mayford, M., Barzilai, A., Keller, F., Schacher, S. and Kandel, E.R. (1992) Modulation of an NCAM-related adhesion molecule with long-term synaptic plastisity in Aplysia. Science, 256, 638-644.
67. Shizuya, H., Birren, B.I., Kim, U.J., Mancino, B., Splepak, T., Tachiiri, Y. and Simon, M.I. (1992) Cloning and stable maintenance of 300-kilo-base-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc. Natl Acad. Sci. USA, 89, 8794-8797.
68. Kim, U.J., Birren, B.W., Splepak, T., Mancino, V., Boysen, C., Kang, H.L., Simon, M.I. and Shizuya, H. (1996) Construction and characterization of a human bacterial artificial chromosome library. Genomics, 34, 213-218.
69. Chumakov, L, Rigault, P., Guillou, S., Ougen, P., Billaut, A., Guasconi, G., Gervy, P., LeGall, I., Soularue, P., Grinas, L., Bougueleret, L., Bellanne-Chantelot, C., Lacroix, B., Barillot, E., Gesnouin, P., Pook, S., Vaysseix, G., Frelat, G., Schmitz, A., Sambucy, J.L., Bosch, A., Estivill. X., Weissenbach, J., Vignal, A., Reithman, H., Cox, D., Patterson, D., Gardiner, K., Hattori, M., Sakaki, Y., Ichikawa, H., Ohki, M., LePaslier, D., Heilig, R., Antonarakis, S. and Cohen, D. (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature, 359, 380-387.
70. Iannou, P.A., Amemiya, C.T., Garnes, J., Kroisel, P.M., Shizuya, H., Chen, C., Batzer, M.A. and de Jong, P.J. (1994) A new bacteriophage P1 -derived vector for the propagation of large human DNA fragments. Nature Genet., 6, 84-89.
71. Korenberg, J.R. and Chen, X.N. (1995) Human cDNA mapping using a high-resolution R-banding technique and fluorescence in situ hybridization. Cytogenet. Cell Genet., 68, 196-200.
72. Lyons, G.E., Micales, B.K., Schwarz, J., Martin, J.F. and Olson, E.N. (1995) Expression of mef2 genes in the mouse central nervous system suggests a role in neuronal maturation. J. Neurosci., 15, 5727-5738.
73. Rugh, R. (1990) The Mouse: Its Reproduction and Development. Oxford University Press.
74. Kaufman, M.H. (1992) The Atlas of Mouse Development. Academic Press, New York.