Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region (original) (raw)

References

1. Prader, A., Labhart, A. & Willi, H., Syndrom von Adipositas, Kleinwuchs, Kryptorchidismus und Oligophrenie nach myotonie-artigem Zustand in Neugeborenalter. Schweiz. Med. Wochenschr. 86, 1260–1261 (1956).
   Google Scholar
2. Ledbetter, D.H. et al. Deletion of chromosome 15 as a cause of the Prader-Willi syndrome. New Engl. J. Med. 304, 325–329 (1981).
   Article CAS PubMed Google Scholar
3. Butler, M.G., Meaney, F.J. & Palmer, C.G. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. med. Genet. 23, 793–809 (1986).
   Article CAS PubMed PubMed Central Google Scholar
4. Butler, M.G. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am. J. med. Genet. 35, 319–335 (1990).
   Article CAS PubMed PubMed Central Google Scholar
5. Magenis, R.E. et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences. Am. J. med. Genet. 35, 333–349 (1990).
   Article CAS PubMed Google Scholar
6. Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S. & Lalande, M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342, 281–285 (1989).
   Article CAS PubMed PubMed Central Google Scholar
7. Mascari, M.J. et al. The frequency of uniparental disomy in Prader-Willi Syndrome. Implications for molecular diagnosis. N. Engl. J. Med. 326, 1599–1607 (1992).
   Article CAS PubMed PubMed Central Google Scholar
8. Magenis, R.E., Brown, M.G., Lacy, D.A., Budden, S. & LaFranchi, S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am. J. med. Genet 28, 829–838 (1987).
   Article CAS PubMed Google Scholar
9. Malcolm, S. et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 337, 694–697 (1991).
   Article CAS PubMed Google Scholar
10. Wagstaff, J. et al. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genet. 1, 291–294 (1992).
    Article CAS PubMed Google Scholar
11. Kuwano, A. et al. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum. molec. Genet 1, 417–425 (1992).
    Article CAS PubMed Google Scholar
12. Guthrie, C. Messenger RNA splicing in yeast: Clues to why the spliceosome is a ribonucleoprotein. Science 253, 157–163 (1991).
    Article CAS PubMed Google Scholar
13. McAllister, G., Amara, S.G. & Lerner, M.R. Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N. Proc. natn. Acad. Sci. U.S.A. 85, 5296–5300 (1988).
    Article CAS Google Scholar
14. Li, S., Klein, E.S., Russo, A.F., Simmons, D.M. & Rosenfeld, M.G. Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities. Proc. natn. Acad. Sci. U.S.A. 86, 9778–9782 (1989).
    Article CAS Google Scholar
15. Schmauss, C., McAllister, G., Ohosone, Y., Hardin, J.A. & Lerner, M.R. A comparison of snRNP-associated Sm-autoantigens: Human N, rat N and human B/B'. Nucl. Acids Res. 17, 1733–1743 (1989).
    Article CAS PubMed PubMed Central Google Scholar
16. McAllister, G., Roby-Shemkovitz, A., Amara, S.G. & Lerner, M.R. cDNA sequence of the rat U snRNP-associated protein N: Description of a potential Sm epitope. EMBO J. 8, 1177–1181 (1989).
    Article CAS PubMed PubMed Central Google Scholar
17. Schmauss, C. & Lerner, M.R. The closely related small nuclear ribonucleoprotein polypeptides N and B/B' are distinguishable by antibodies as well as by differences in their mRNAs and gene structures. J. biol. Chem. 265, 10733–10739 (1990).
    CAS PubMed Google Scholar
18. Schmauss, C., Brines, M.L. & Lerner, M.R. The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. J. biol. Chem. 267, 8521–8529 (1992).
    CAS PubMed Google Scholar
19. Sharpe, N.G., Williams, D.G. & Latchman, D.S. Regulated expression of the small nuclear ribonucleoprotein particle protein SmN in embryonic stem cell differentiation. Molec. cell Biol. 10, 6817–6820 (1990).
    Article CAS PubMed PubMed Central Google Scholar
20. Sundaresan, S. & Francke, U. Genes for β2-adrenergic receptor and the platelet-derived growth factor receptor map to mouse chromosome 18. Somat. Cell molec. Genet. 15, 367–371 (1989).
    Article CAS PubMed Google Scholar
21. Chaillet, J.R. et al. The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. Genomics 11, 773–776 (1991).
    Article CAS PubMed Google Scholar
22. Left, S.E. et al. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genetics 2, 259–264 (1992).
    Article Google Scholar
23. Robinson, W.P. et al. Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am. J. hum. Genet. 49, 1219–1234 (1991).
    CAS PubMed PubMed Central Google Scholar
24. Hamabe, J.-i., Kuroki, Y. & Imaizumi, K. DNA deletion and its parental origin in Angelman syndrome patients. Am. J. med. Genet. 41, 64–68 (1991).
    Article CAS PubMed Google Scholar
25. Saitoh, S. et al. Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3 subunit gene. Lancet 339, 366–367 (1992).
    Article CAS PubMed Google Scholar
26. Wagstaff, J. et al. Localization of the gene encoding the GABAA receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am. J. hum. Genet. 49, 330–337 (1991).
    CAS PubMed PubMed Central Google Scholar
27. Donlon, T. Report of the first international workshop on human chromosome 15 (1992). Cytogenet. Cell Genet. (in the press).
28. Zhang, Y. & Tycko, B. Monoallelic expression of the human H19 gene. Nature Genet. 1, 40–44 (1992).
    Article CAS PubMed Google Scholar
29. Bartolomei, M.S., Zemel, S. & Tilghman, S.M. Parental imprinting of the mouse H19 gene. Nature 351, 153–155 (1991).
    Article CAS PubMed Google Scholar
30. Rokeach, L.A., Jannatipour, M., Haselby, J.A. & Hoch, S.O. Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis. J. Biol. Chem. 264, 5024–5030 (1989).
    CAS PubMed Google Scholar
31. Francke, U., Yang-Feng, T.L., Brissenden, J.E. & Ullrich, A. Chromosomal mapping of genes involved in growth control. In Molecular Biology of Homo Sapiens, Cold Spring Harbor Symp. Quant. Biol. 51, 855–866 (1986).
    Google Scholar
32. Oliver, N., Francke, U. & Pellegrino, M.A. Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3 and β2-microglobulin expression on human chromosome 15 by hybridization of cells from at(15;22) (q14;q13.3). translocation carrier. Cytogenet. Cell Genet. 22, 506–510 (1978).
    Article CAS PubMed Google Scholar
33. Francke, U. & Pellegrino, M.A. Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc. natn. Acad. Sci. U.S.A. 74, 1147–1151 and 5776 (1977).
    Article CAS Google Scholar
34. Barton, D.E., Yang-Feng, T.L. & Francke, U. The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22-q24) by somatic cell hybrid analysis and in situ hybridization. Hum. Genet. 72, 221–224 (1986).
    Article CAS PubMed Google Scholar

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