Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21

Genome Research

Volumn 7, Issue 1, 1997, Pages 47-58

  Ohira, Miki ^a,b   Seki, Naohiko ^a   Nagase, Takahiro ^a   Suzuki, Emiko ^a,b   Nomura, Nobuo ^a   Ohara, Osamu ^a   Hattori, Masahira ^c   Sakaki, Yoshiyuki ^c   Eki, Toshihiko ^d   Murakami, Yasufumi ^d   Saito, Toshiyuki ^e   Ichikawa, Hitoshi ^b   Ohki, Misao ^b  

^a KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^b NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d RIKEN TSUKUBA INSTITUTE   (Japan)

^e NATIONAL INSTITUTE OF RADIOLOGICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; POTASSIUM CHANNEL;

ARTICLE; BRAIN; CHROMOSOME 21; DNA LIBRARY; DNA SEQUENCE; DOWN SYNDROME; EXON; FETUS HEART; GENE ISOLATION; GENE MAPPING; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; JAPAN; MOLECULAR CLONING; PARTIAL TRISOMY; PRIORITY JOURNAL;

EID: 15644380741     PISSN: 10549803     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.1.47     Document Type: Article

References (47)

1. Ansari-Lari, M.A., D.M. Muzny, J. Lu, F. Lu, C.E. Lilley, S. Spanos, T. Malley, and R.A. Gibbs. 1996. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res. 6: 314-326.
2. Blouin, J.L., G.D. Sail, and S.E. Anlonarakis. 1996. Mapping of the human holocarboxylase synthetase (HCS) to the Down syndrome critical region of chromosome 21q22. Ann. Genet. 39: 185-188.
3. Brody, L.C., K.J. Abel, L.H. Castilla, F.J. Couch, D.R. McKinley, G.Y. Yin, P.P. Ho, S. Merajver, S.C. Chandrasekharappa, J. Xu, J.L. Cole, J.P. Struewing, J.M. Valdes, F.S. Collins, and B.L. Weber. 1995. Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. Genomics 25: 238-247.
4. Buckler, A.J., D.D. Chang, S.L. Graw, J.D. Brook, D.A. Haber, P.A. Sharp, and D.E. Housman. 1991. Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. 88: 4005-4009.
5. Chen, E.Y., M. Zollo, R. Mazzarella, A. Ciccodicola, C. Chen, L. Zuo, C. Heiner, F. Burough, M. Repetto, D. Schlessinger, and M. D'Urso. 1996. Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum. Mol. Genet. 5: 659-668.
6. Chen, H., R. Chrast, C. Rossier, A. Gos, S.E. Antonarakis, J. Kudoh, A. Yamaki, N. Shindo, H. Maeda, S. Minoshima, and N. Shimizu. 1995. Single-minded and Down syndrome? Nature Genet. 10: 9-10.
7. Chen, H., R. Chrast, C. Rossier, M. Morris, M. Lalioti, and S. Antonarakis. 1996. Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping. Genome Res. 6:747-760.
8. Cheng, J.F., V. Boyartchuk, and Y. Zhu. 1994. Isolation and mapping of human chromosome 21 cDNA: Progress in constructing a chromosome 21 expression map. Genomics 23: 75-84.
9. Chiang, P.W., G. Dzida, J. Grumet, J.-F. Cheng, W.-J. Song, E. Crombez, M.L. Van Keuren, and D.M. Kurnit. 1995. Expressed sequence tags from long arm of human chromosome 21. Genomics 29: 383-389.
10. Delabar, J.M., D. Theophile, Z. Rahmani, Z. Chettouh, J.-L. Blouin, M. Prieur, B. Noel, and P.-M. Sinet. 1993. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet. 1: 114-124.
11. Epstein, C.J. 1986. The consequences of chromosome imbalance: Principles, mechanisms, and models. Cambridge University Press, Cambridge, UK.
12. + channel subunits which interact to form G-protein-activated channels. J. Biol. Chem. 270: 26086-26091.
13. Frohman, M.A., M.K. Dush, and G.R. Martin. 1988. Rapid production of full-length cDNA from rare transcripts: Amplification using a single gene-specific oligo-nucleotide primer. Proc. Natl. Acad. Sci. 85: 8998-9002.
14. Gong, W., B.S. Emanuel, J. Collins, D.H. Kim, Z. Wang, F. Chen, G. Zhang, B. Roe, and M.L. Budarf. 1996. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet. 5: 789-800.
15. Guimerá, J., C. Casas, C. Pucharcos, A. Solans, A. Domenech, A. Planas, J. Ashley, M. Lovett, X. Estivill, and M. Pritchard. 1996. 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.
16. Ho, K., C.G. Nichols, W.J. Lederer, J. Lytton, P.M. Vassilev, M.V. Kanazirska, and S.C. Hebert. 1993. Cloning and expression of an inwardly rectifying ATP-regulated potassium channel. Nature 362: 31-38.
17. Ichikawa, H., F. Hosoda, Y. Arai, K. Shimizu, M. Ohira, and M. Ohki. 1993. A NotI restriction map of the entire long arm of human chromosome 21. Nature Genet. 4: 361-366.
18. Kioschis, P., U.C. Rogner, E. Pick, S.M. Klauck, N. Heiss, R. Siebenhaar, B. Korn, J.F. Coy, J. Laporte, S. Liechti-Gallati, and A. Poustka. 1996. A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1). Genomics 33: 365-373.
19. Kishimoto, A., K. Nishiyama, H. Nakanishi, Y. Uratsuji, H. Nomura, Y. Takeyama, and Y. Nishizawa. 1985. Studies on the phosphorylation of myelin basic protein by protein kinase C and adenosine 3′:5′-monophosphate-dependent protein kinase. J. Biol. Chem. 260: 12492-12499.
20. Korenberg, J.R., H. Kawashima, S-M. Pulst, T. Ikeuchi, N. Ogasawara, K. Yamamoto, S.A. Schonberg, R. West, L. Allen, E. Magenis, K. Ikawa, N. Taniguchi, and C.J. Epstein. 1990. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am. J. Hum. Genet. 47: 236-246.
21. Korenberg, J.R., X.N. Chen, R. Schipper, Z. Sun, R. Gonsky, S. Gerwehr, N. Carpenter, C. Daumer, P. Dignan, C. Disteche, J.M. Graham, Jr., L. Hugdins, B. McGillivray, K. Miyazaki, N. Ogasawara, J.P. Park, R. Pagon, S. Pueshel, G. Sack, B. Say, S. Schuffenhauer, S. Soukup, and T. Yamanaka. 1994. Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc. Natl. Acad. Sci. 91: 4997-5001.
22. Kozak, M. 1987. At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J. Mol. Biol. 196: 947-950.
23. Kyte, J. and R.F. Doolittle. 1982. A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157: 105-132.
24. León-Del-Rio, A., D. Leclerc, B. Akerman, N. Wakamatsu, and R.A. Gravel. 1995. Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli. Proc. Natl. Acad. Sci. 92: 4626-4630.
25. Lucente, D., H.M. Chen, D. Shea, S.N. Samec, M. Rutter, R. Chrast, C. Rossier, A. Buckler, S.E. Antonarakis, and M.K. McCormick. 1995. Localization of 102 exons to a 2.5 Mb region involved in Down syndrome. Hum. Mol. Genet. 4: 1305-1311.
26. Nomura, N., N. Miyajima, T. Sazuka, A. Tanaka, Y. Kawarabayashi, S. Sato, T. Nagase, N. Seki, K. Ishikawa, and S. Tabata. 1994. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res. 1: 27-35.
27. Ohira, M., H. Ichikawa, E. Suzuki, M. Iwaki, K. Suzuki, F. Saito-Ohara, T. Ikeuchi, I. Chumakov, H. Tanahashi, K. Tashiro, Y. Sakaki, and M. Ohki. 1996a. A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21. Genomics 33: 65-74.
28. Ohira, M., A. Ootsuyama, E. Suzuki, H. Ichikawa, N. Seki, T. Nagase, N. Nomura, and M. Ohki. 1996b. Identification of a novel gene containing the tetratricopeptide repeat motifs of the Down syndrome region on chromosome 21. DNA Res. 3: 9-16.
29. Olsen, A., S. Teglund, D. Nelson, L. Gordon, A. Copeland, A. Georgescu, A. Carrano, and S. Hammarström. 1994. Gene organization of the pregnancy-specific glycoprotein region on human chromosome 19: Assembly and analysis of a 700-kb cosmid contig spanning the region. Genomics 23: 659-668.
30. Osoegawa, K., R. Susukida, S. Okano, J. Kudoh, S. Minoshima, N. Shimizu, P.J. de Jong, J. Groet, J. Ives, H. Lehrach, D. Nizetic, and E. Soeda. 1996. An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region. Genomics 32: 375-387.
31. Patil, N., A. Peterson, A. Rothman, P.J. de Jong, R.M. Myers, and D.R. Cox. 1994. A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21. Hum. Mol. Genet. 3: 1811-1817.
32. Patil, N., D.R. Cox, D. Bhat, M. Faham, R.M. Myers, and A.S. Peterson. 1995. A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nature Genet. 11:126-129.
33. Peterson, A., N. Patil, C. Robbins, L. Wang, D.R. Cox, and R.M. Myers. 1994. A transcript map of the Down syndrome critical region on chromosome 21. Hum. Mol. Genet. 3: 1735-1742.
34. Pless, D.D. and W.J. Lennarz. 1977. Enzymatic conversion of proteins to glycoproteins. Proc. Natl. Acad. Sci. 74: 134-138.
35. Rahmani, Z., J.E. Blouin, N. Creau-Goldberg, P.C. Watkins, J.-F. Mattei, M. Poissonnier, M. Prieur, Z. Chettouh, A. Nicole, A. Aurias, P.-M. Sinet, and J.-M. Delabar. 1989. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc. Natl. Acad. Sci. 86: 5958-5962.
36. Reddy, E.S.P., V.N. Rao, and T.S. Papas. 1987. The erg gene: A human gene related to the ets oncogene. Proc. Natl. Acad. Sci. 84: 6131-6135.
37. Saccone, S., A. De Sario, J. Wiegant, A.K. Raap, G. Delia Valle, and G. Bernardi. 1993. Correlations between isochores and chromosomal bands in the human genome. Proc. Natl. Acad. Sci. 90:11929-11933.
38. Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular cloning: A laboratory manual, 2nd edition. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
39. Saraste, M., P.S. Sibbald, and A. Wittinghofer. 1990. The P-loop - A common motif in ATP- and GTP-binding proteins. Trends Biol. Sci. 15: 430-434.
40. Shimizu, N., S.E. Antonarakis, C. Van Brockhoven, D. Patterson, K. Gardiner, D. Nizetic, N. Créau, J.-M. Delabar, J. Korenberg, R. Reeves, J. Doering, A. Chakravati, S. Minoshima, O. Ritter, and J. Cuticchia. 1995. Report of the fifth international workshop on human chromosome 21 mapping 1994. Cytogenet. Cell Genet. 70: 147-182.
41. Shindoh, N., J. Kudoh, H. Maeda, A. Yamaki, S. Minoshima, Y. Shimizu, and N. Shimizu. 1996. Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from "the Down syndrome critical region" of chromosome 21. Biochem. Biophys. Res. Comm. 225:92-99.
42. Shuck, M.E., J.H. Bock, C.W. Benjamin, T.-D. Tsai, K.S. Lee, J.L. Slightom, and M.J. Bienkowski. 1994. Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J. Biol. Chem. 269: 24261-24270.
43. Suzuki, Y., Y. Aoki, Y. Ishida, Y. Chiba, A. Iwamaysu, T. Kishino, N. Niikawa, Y. Matsubara, and K. Narisawa. 1994. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nature Genet. 8: 122-128.
44. Takumi, T., T. Ishii, Y. Horio, K. Morishige, N. Takahashi, M. Yamada, T. Yamashita, H. Kiyama, K. Sohmiya, S. Nakanishi, and Y. Kurachi. 1995. A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J. Biol. Chem. 270: 16339-16346.
45. Tassone, F., H. Xu, H. Burkin, S. Weissman, and K. Gardiner. 1995. cDNA selection from 10 Mb of chromosome 21 DNA: Efficiency in transcriptional mapping and reflections of genome organization. Hum. Mol. Genet. 4: 1509-1518.
46. Tsaur, M.L., T. Menzel, F.-P. Lai, R. Espinosa III, P. Concannon, R.S. Spielman, C.L. Hanis, N.J. Cox, M.M. Le Beau, M.S. German, L.Y. Jan, G.I. Bell, and M. Stoffel. 1995. Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. Diabetes 44: 592-596.
47. Yaspo, M.L., L. Gellen, R. Mott, B. Korn, D. Nizetic, A. Poustka, and H. Lehrach. 1995. Model for a transcript map of human chromosome 21: Isolation of new coding sequences from exon and enriched cDNA libraries. Hum. Mol. Genet. 4: 1291-1304.