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Proteins Affected by Chromosome 21 and Ageing In Vitro

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Abstract

An extra copy of chromosome 21 is the cause of the disorder known as Down syndrome. The mechanisms underlying the pathogenesis of this syndrome are unknown. Some of the features of Down syndrome are mental retardation, a high incidence of cardiac defects and predisposition for development of acute myeloblasts and acute lymphocytic leukemia (1). Individuals with this disorder display features of premature ageing (2, 3); those who survive into their 30’s and 40’s express dementia, accompanied by neuropathological features identical to those found in Alzheimer’s disease (4–6).

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References

  1. ZELLWEGER, H. and SIMPSON, J. (1977). Down’s Syndrome. In: Chromosome of Man, p. 41, Lippincott, Philadelphia, Penn.

    Google Scholar 

  2. MARTIN, G.M. (1978). Genetic syndromes in man with potential relevance to the pathology of ageing. Birth Defects: Prig. Art. Ser. XIV, 1, 5.

    Google Scholar 

  3. GOLDSTEIN, S. (1978). Human genetic disorder that feature premature onset and accelerated progression of biological ageing. In: The genetics of ageing (ed. E.L. Schneider), p. 171, Plenum Press, New York.

    Chapter  Google Scholar 

  4. JERVIS, G.A. (1970). Premature senility in Down’s syndrome. Ann. N.Y. Acad. Sci., 171, 558.

    Article  Google Scholar 

  5. ELLIS, W.G., MCCULLOCH, U.R. and CORLEY, C.L. (1974). Presenile dementia in Down’s syndrome: ultrastructural identity with Alzheimer’s disease. Neurology, 24, 101.

    Article  PubMed  CAS  Google Scholar 

  6. OLSON, M.I. and SHAW, C. (1969). Presenile dementia and Alzheimer’s disease in mongolism. Brain, 92, 147.

    Article  PubMed  CAS  Google Scholar 

  7. SCHMICKEL, R.D. and KNOLLER, M. (1977). Characterization and location of the human genes for ribosomal ribonucleic acid Pedi at. Res., 11, 929.

    Article  CAS  Google Scholar 

  8. TAN, Y.H., TISCHFIELD, J. and RUDDLE, F. (1973). The linkage of the genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to human chromosome G-21. J. Exp. Med., 137, 317.

    Article  PubMed  CAS  Google Scholar 

  9. MOORE, E.E., JONES, C., KAO, F.T. and OATES, D. (1977). Syn-teny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble). Am. J. Hum. Genet., 29, 389.

    PubMed  CAS  Google Scholar 

  10. PATTERSON, D., GRAW, S. and JONES, C. (1981). Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21. Proc. Natl. Acad. Sci. USA, 78, 405.

    Article  PubMed  CAS  Google Scholar 

  11. VORA, S. and FRANKE, U. (1981). Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFK.) to chromosome 21 by using somatic cell hybrids and monoclonal antibodies. Proc. Natl. Acad. Sci. USA,78, 3738.

    Article  PubMed  CAS  Google Scholar 

  12. MENDELSON, M.L., MAYALL, B.H., BOGART, E.B., MOORE, D.H. and PERRY, B.H. (1973). DNA content and DNA-baaed centrometric index of the 24 human chromosomes. Science, 179, 1126.

    Article  Google Scholar 

  13. HOLLORAN, K.H., BERG, W.R. and MAHONEY, M.J. (1974). 21 monosomy in a retarded female infant. J. Med. Genet., 11, 386.

    Article  Google Scholar 

  14. DAVIS, J.G., JENKINS, E.C., KLINGER, H.P. and WEED, R.G. (1976). A child with presumptive monosomy 21 (45, XY, -21) in a family in which some members are Gq-. Cytogenet. Cell Genet., 17, 65.

    Article  PubMed  CAS  Google Scholar 

  15. GRIPENBERG, U., ELFVING, J. and GRIPENBERG, L. (1972). A 45, XX, 21- child: attempt at a cytological and clinical interpretation of the karyogram. J. Med. Genet., 9, 110.

    Article  PubMed  CAS  Google Scholar 

  16. KURNIT, D.M. (1979). Down syndrome: gene dosage at the transcriptional level in skin fibroblasts. Proc. Natl. Acad. Sci. USA, 76, 2372.

    Article  PubMed  CAS  Google Scholar 

  17. FEASTER, W.W., KWOK, L.W. and EPSTEIN, C.J. (1977). Dosage effects for superoxide dismutase-1 in nucleated cells aneu-ploid for chromosome 21. Am. J. Hum. Genet., 29, 563.

    PubMed  CAS  Google Scholar 

  18. SCHITIU, S., SINET, P.M., LEJEUNE, J. and FREZAL, J. (1974). Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. Humangenetik, 23, 65.

    Article  Google Scholar 

  19. TAN, Y.H., SCHNEIDER, E.L., TISCHFELD, J., EPSTEIN, C.J. and RUDDLE, F.H. (1974). Human chromosome 21 dosage: effect on the expression of the interferon-induced antiviral state. Science, 186, 61.

    Article  PubMed  CAS  Google Scholar 

  20. EPSTEIN, C.J., EPSTEIN, L.B., WEIL, J. and COX, D. (1982). Trisomy 21: mechanisms and models. Ann. N.Y. Acad. Sci, in press.

    Google Scholar 

  21. BARTLEY, J.A. and EPSTEIN, C.J. (1980). Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomie for chromosome 21. Biochem. Biophys. Res. Comm., 93, 1286.

    Article  PubMed  CAS  Google Scholar 

  22. SCOGGIN, C.H., BLESKAN, J., DAVIDSON, J.N. and PATTERSON, D. (1980). Gene expression of glycinamide ribonucleotide synthetase in Down syndrome. Clin. Res., 28, 31A (abstract).

    Google Scholar 

  23. FRANKE, U. (1981). Gene dosage studies in Down syndrome. In: Trisomy 21 (Down syndrome) Research Perspectives (eds, F.F. de la Cruz and P. Gerald), p. 237, University Park Press, Baltimore, Maryland.

    Google Scholar 

  24. MERRIL, C.R., GOLDMAN, D. and EBERT, M. (1981). Protein variations associated with Lesch-Nyhan syndrome. Proc. Natl. Acad. Sci. USA, 78, 6471.

    Article  PubMed  CAS  Google Scholar 

  25. MERRIL, C.R. and GOLDMAN, D. (1982). Quantitative two dimensional protein electrophoresis for studies of inborn errors of metabolism. Clin. Chem., 28, 1015.

    PubMed  CAS  Google Scholar 

  26. GOLDMAN, D., MERRIL, C.R., POLINSKY, R.J. and EBERT, M. (1982). Lymphocyte proteins in Huntington’s disease: quantitative analysis by use of two dimensional electrophoresis and computerized densitometry. Clin. Chem., 28, 1021.

    PubMed  CAS  Google Scholar 

  27. LEAVITT, J., GOLDMAN, D., MERRIL, C.R. and KAKUNGA, T. (1982). Changes in gene expression accompanying malignant transformation of human fibroblasts. Carcinogenesis, 3, 61.

    Article  PubMed  CAS  Google Scholar 

  28. O’FARRELL, P.H. (1975). High resolution two dimensional electrophoresis of proteins. J. Biol. Chem., 250, 4007.

    PubMed  Google Scholar 

  29. SWITZER, R.C., MERRIL, C.R. and SHIFRIN, S. (1979). A highly sensitive silver stain for detecting proteins and peptides in Polyacrylamide gels. Anal. Biochem., 98, 231.

    Article  PubMed  CAS  Google Scholar 

  30. MERRIL, C.R., SWITZER, R.C. and VAN KEUREN, M.L. (1979). Trace polypeptides in cellular extracts and human body fluids detected by two dimensional electrophoresis and a highly sensitive silver stain. Proc. Natl. Acad. Sci. USA, 76, 4335.

    Article  PubMed  CAS  Google Scholar 

  31. MERRIL, C.R., GOLDMAN, D., SEDMAN, S. and EBERT, M.H. (1981). Ultrasensitive stain for proteins in Polyacrylamide gels shows regional variation in cerebrospinal fluid proteins. Science, 211, 1437.

    Article  PubMed  CAS  Google Scholar 

  32. MERRIL, C.R., GOLDMAN, D. and VAN KEUREN, M.L. (1982). Simplified silver protein detection and image enhancement methods in Polyacrylamide gels. Electrophoresis, 3, 17.

    Article  CAS  Google Scholar 

  33. VAN KEUREN, M.L., GOLDMAN, D. and MERRIL, C.R. (1981). Detection of radioactively labelled proteins is quenched by silver staining methods: quenching is minimal for [14C] and partially reversible for [3H] with a photochemical stain. Anal. Biochem., 116, 248.

    Article  PubMed  Google Scholar 

  34. FRIDOVITCH, I. (1975). Superoxide dismutases. Ann. Rev. Biochem., 44, 147.

    Article  Google Scholar 

  35. VAN KEUREN, M.L., GOLDMAN, D. and MERRIL, C.R. (1981). A quantitative two dimensional electrophoretic survey of proteins affected by chromosome 21. In: Electrophoresis ’81 (eds, R.C. Allen and P. Arnaud), p. 355, Walter de Gruyter & Co., Berlin.

    Google Scholar 

  36. BROWN, W.T., DUTKOWSKI, R. and DARLINGTON, G.T. (1981). Localization and quantitation of human superoxide dismutase using computerized 2-D gel analysis. Biochem. Biophys. Res. Comm., 102, 675.

    Article  PubMed  CAS  Google Scholar 

  37. BRAVO, R. and CELIS, J.E. (1982). Updated catalogue of HeLa cell proteins: percentages and characteristics of the major cell polypeptides labelled with a mixture of 16 14C -labelled amino acids. Clin. Chem., 28, 776.

    Google Scholar 

  38. MCCONKEY, E.H. (1979). Double-label autoradiography for complex protein mixtures after gel electrophoresis. Anal. Biochem., 96, 39.

    Article  PubMed  CAS  Google Scholar 

  39. VAN KEUREN, M.L., GOLDMAN, D. and MERRIL, C.R. (1982). Protein variations associated with Down’s syndrome, chromosome 21, and Alzheimer’s disease. Ann. N.Y. Acad. Sci., in press.

    Google Scholar 

  40. GOLDMAN, D. and MERRIL, C.R., manuscript submitted.

    Google Scholar 

  41. WEIL, J. and EPSTEIN, C.J. (1979). The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts. Am. J. Hum. Genet., 7, 478.

    Google Scholar 

  42. KLOSE, J., ZEINDL, E. and SPERLING, K. (1982). Analysis of protein patterns in two dimensional gels of cultured human cells with trisomy 21. Clin. Chem. 28, 987.

    PubMed  CAS  Google Scholar 

  43. ORGEL, L.E. (1963). The maintenance of the accuracy of protein synthesis and its relevance to ageing. Proc. Natl. Acad. Sci. USA, 49, 517.

    Article  PubMed  CAS  Google Scholar 

  44. STEINBERG, R.A., O’FARRELL, P.H., FRIEDRICH, U. and COFFINO, P. (1977). Mutations carrying charge alterations in regulatory subunits of the cAMP-dependent protein kinase of cultured S49 lymphoma cells. Cell, 10, 381.

    Article  PubMed  CAS  Google Scholar 

  45. WILSON, D.L., HALL, M.E. and STONE, G.C. (1978). Test of some ageing hypotheses using two dimensional protein mapping. Gerontol., 24, 426.

    Article  CAS  Google Scholar 

  46. ENGELHARDT, D.L., LEE, G.T.Y. and MOLEY, S.F. (1978). Patterns of peptide synthesis in senescent and presenescent human fibroblasts. J. Cell Phys., 98, 193.

    Article  Google Scholar 

  47. HAYFLICK, L. (1981). Recent advanced in the cell biology of ageing. Mech. Ageing. Devel., 14, 59.

    Article  Google Scholar 

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© 1983 Plenum Press, New York

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Van Keuren, M.L., Merril, C.R., Goldman, D. (1983). Proteins Affected by Chromosome 21 and Ageing In Vitro . In: Celis, J.E., Bravo, R. (eds) Gene Expression in Normal and Transformed Cells. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4541-1_16

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  • DOI: https://doi.org/10.1007/978-1-4684-4541-1_16

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-4543-5

  • Online ISBN: 978-1-4684-4541-1

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