The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3

Genomics

Volumn 33, Issue 2, 1996, Pages 298-300

  Lalioti, Maria D ^a   Gos, Arnaud ^b   Green, Michael R ^c   Rossier, Colette ^a   Morris, Michael A ^b   Antonarakis, Stylianos E ^a,b,d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^d Div de Genet Médicale   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE; MESSENGER RNA; OLIGONUCLEOTIDE; PROTEIN SUBUNIT; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; CHROMOSOME 21Q; CONTROLLED STUDY; COSMID; DOWN SYNDROME; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENE TARGETING; HUMAN; MOLECULAR CLONING; MYOCLONUS EPILEPSY; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE HOMOLOGY; TRISOMY 21;

EID: 0029927488     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0196     Document Type: Article

References (24)

1. Aaltonen, J., Bjorses, P., Sandkuijl, L., Perheentupa, J., and Peltonen, L. (1994). An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 8: 83-87.
2. Altschul, S. F., Gish, W., Miller, W., Myers, E. W., and Lipman, D. J. (1990). Basic local alignement search tool. J. Mol. Biol. 215: 403-410.
3. Antonarakis, S. E. (1993). Human chromosome 21: Genome mapping and exploration, circa 1993. Trends Genet. 9: 142-148.
4. Barabino, S. M., Blencowe, B. J., Ryder, U., Sproat, B. S., and Lamond, A. I. (1990). Targeted snRNP depletion reveals an additional role for mammalian U1 snRNP in spliceosome assembly. Cell 63: 293-302.
5. 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 8: 4005-4009.
6. Chen, H. M., Chrast, R., Rossier, C., Blouin, J. L., Lalioti, M. D., Samec, S. N., Morris, M. A., Gos, A., and Antonarakis, S. E. (1994). Towards a transcription map of human chromosome 21: Identification of expressed sequences by exon trapping. Am. J. Hum. Genet. 55: 255A.
7. Cheng, J. F., Boyartchuk, V., and Zhu, Y. W. (1994). Isolation and mapping of human chromosome 21 cDNA - Progress in constructing a chromosome 21 expression map. Genomics 23: 75-84.
8. Chumakov, I., 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., Riethman, H., Cox, D., Patterson, D., Gardine, K., Hattori, M., Sakaki, Y., Ichikawa, H., Ohki, M., Le Paslier, D., Heilig, R., Antonarakis, S. E., and Cohen, D. (1992). Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359: 380-387.
9. 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.
10. Ichikawa, H., Hosoda, F., Arai, Y., Shimizu, K., Ohira, M., and Ohki, M. (1993). A NotI restriction map of the entire long arm of human chromosome 21. Nature Genet. 4: 361-366.
11. Krämer, A., and Utans, U. (1991). Three protein factors (SF1, SF3 and U2AF) function in pre-splicing complex formation in addition to snRNPs. EMBO J. 10(6): 1503-1509.
12. Lafrenière, R. G., De Jong, P., and Rouleau, G. A. (1995). A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. Genomics 29: 288-290.
13. Lehesjoki, A. E., Koskiniemi, M., Norio, R., Tirrito, S., Sistonen, P., Lander, E., and De la Chapelle, A. (1993). Localisation of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping. Hum. Mol. Genet. 2: 1229-1234.
14. Lejeune, J., Gautier, M., and Turpin, R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens. CR. Acad. Sci. Paris 248: 1721-1722.
15. Lucente, D., Chen, H. M., Shea, D., Samec, S. N., Rutter, M., Chrast, R., Rossier, C., Buckler, A., Antonarakis, S. E., and McCormick, M. K. (1995). Localisation of 102 exons to a 2.5 Mb region involved in Down syndrome. Hum. Mol. Genet. 4: 1305-1311.
16. McInnis, M. G., Chakravarti, A., Blaschak, J., Petersen, M. B., Sharma, V., Avramopoulos, D., Blouin, J. L., Konig, U., Brahe, C., Matise, T. C., Warren, A. C., Talbot, C. C., Jr., Van Broeckhoven, C., Litt, M., and Antonarakis, S. E. (1993). A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5cM. Genomics 16: 562-571.
17. Nizetic, D., Gellen, L., Hamvas, R. M., Mott, R., Grigoriev, A., Vatcheva, R., Zehetner, G., Yaspo, M. L., Dutriaux, A., Lopes, C., Delabar, J. M., Van Broeckhoven, C., Potier, M. C., and Lehrach, H. (1994). An integrated YAC-overlap and cosmidpocket map of the human chromosome 21. Hum. Mol. Genet. 3: 759-770.
18. Peterson, A., Patil, N., Robbins, C., Wang, L., Cox, D. R., and Myers, R. M. (1994). A transcript map of the Down syndrome critical region on chromosome 21. Hum. Mol. Genet. 17: 1735-1742.
19. Soeda, E. H., Hou, D. X., Osoegawa, K., Atsuchi, Y., Yamagata, T., Shimokawa, T., Kishida, H., Soeda, E., Okano, S., Chumakov, I., Cohen, D., Raff, M., Gardiner, K., Graw, S. L., Patterson, D., Jong, P. D., Ashworth, L. K., Slezak, T., and Carrano, A. V. (1995). Cosmid assembly and anchoring to human chromosome 21. Genomics 25: 73-84.
20. Straub, R. E., Lehner, T., Luo, Y., Loth, J. E., Shao, W., Sharpe, L., Alexander, J. R., Das, K., Simon, R., Fieve, R. R., Lerer, B., Endicott, J., Ott, J., Gilliam, C. T., and Baron, M. (1994). A possible vulnerability locus for bipolar affectine disorder on chromosome 21q22.3. Nature Genet. 8: 291-296.
21. Tassone, F., Burkin, H., Weissman, S. M., and Gardiner, K. (1995). cDNA selection from 10 Mb of chromosome 21 DNA: Efficiency in transcriptional mapping and reflections of the genome organization. Hum. Mol. Genet. 4: 1509-1518.
22. Yaspo, M. L., Gellen, L., Mott, R., Korn, B., Nizetic, D., Poustka, A., and Lehrach, H. (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.
23. Zamore, P. D, Patton, J. G., and Green, M. R. (1992). Cloning and domain structure of the mammalian splicing factor U2AF. Nature 355: 609-614.
24. Zhang, M., Zamore, P. D., Carmo-Fonseca, M., Lamond, A. I., and Green, M. R. (1992). Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. Proc. Natl. Acad. Sci. USA 89: 8769-8773.