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Chromosomal Mosaicism in the Human and Chromosomal Change in vitro

  • David Stone

Abstract

Cellular activities can be regulated by mechanisms which stimulate or inhibit the enzymes already existing in the cell, or stimulate or inhibit their synthesis. Largely on the basis of findings in microbiology, the control of enzymatic patterns of activities in the life cycle of the cell is considered to involve, at least in part, regulation of enzyme synthesis at a genetic level [1]. As the scheme in Fig. i shows, each DNA molecule is responsible for the synthesis of a corresponding RNA molecule (the “messenger”) which carries the information of the gene for the correct orientation of amino acids in the synthesis of specific protein. Whether a particular DNA sequence is active or not is determined by its trigger—the “operator” gene. Normally, the operator is repressed by a “repressor” substance produced by a “regulator” gene. Specific materials (perhaps including hormones [2]) which can inhibit the action of the repressor substance will allow the operator trigger to function and start transcription of the DNA strand. The regulation, or playing of the keyboard of genes, during the cell life cycle is so envisaged.

Keywords

Abnormal Karyotype Extra Chromosome Gonadal Dysgenesis Female Cell Chromosomal Mosaicism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Jacob, F., and Monod, J.: On the regulation of gene activity, Cold Spring Harbor Symposium 26: 193, 1961.CrossRefGoogle Scholar
  2. Jacob, F., and Monod, J.: Genetic regulatory mechanisms in the synthesis of proteins, J. Mol. Biol. 3: 318, 1961.PubMedCrossRefGoogle Scholar
  3. 3.
    Karlson, P.: Biochemical mechanism of hormone action, Deutsche Med. Wochschr. 86: 668, 1961.CrossRefGoogle Scholar
  4. 4.
    Karlson, P.: Biochemistry and mode of action of ecdysone, Proc. 2nd Int. Cong. Endocrinól. 1964, p. 416.Google Scholar
  5. 5.
    Bonner, J., and Tso, P.P.: Histone biology and chemistry, Science 141: 651, 1963.PubMedCrossRefGoogle Scholar
  6. 6.
    Bonner, J.: The template activity chromatin, J. Cell. Comp. Physiol. 66: 77, 1965.CrossRefGoogle Scholar
  7. 7.
    Ford, C.E., Jones, K. W., Polani, P. E., de Almeida, J.C., and Briggs, J.H.: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome), Lancet 1: 711, 1959.PubMedCrossRefGoogle Scholar
  8. 8.
    Jacobs, P.A., and Strong, J.A.: A case of human intersexuality having a possible XXY sex-determining mechanism, Nature (London) 183: 302, 1959.CrossRefGoogle Scholar
  9. 9.
    Lejeune, J., Gauthier, M., and Turpin, R.: Les chromosomes humaines en culture de tissus, C. R. Acad. Sci. (Paris) 248: 602, 1959.Google Scholar
  10. 10.
    Edwards, J. H., Harnden, D. G., Cameron, A. H., Crosse, V.M., and Wolff, O.H.: A new trisomic syndrome, Lancet 1: 787, 1960.PubMedCrossRefGoogle Scholar
  11. 11.
    Patau, K., Smith, D. W., Therman, E., Inhorn, S. L., and Wagner, H.P.: Multiple congenital anomaly caused by an extra autosome, Lancet 1: 790, 1960.PubMedCrossRefGoogle Scholar
  12. 12.
    Lindsten, T., Alvin, A., Gustayson, K.H., and Fraccaro, M.: Chromosomal mosaic in a girl with some features of mongolism, Cytogenetics 1: 20, 1962.PubMedCrossRefGoogle Scholar
  13. 13.
    Blank, C.E., Gemmel, E., Casey, M.D., and Lord, M.: Mosaicism in a mother with a mongol child, Brit. Med. J. 2: 378, 1962.CrossRefGoogle Scholar
  14. 14.
    Smith, D. W., Therman, E. M., Patau, K.A., and Inborn, S.L.: Mosaicism in a mother of two mongoloids, Am. J. Dis. Child, 104: 534, 1962.Google Scholar
  15. 15.
    Weinstein, E.D., and Warkany, J.: Maternal mosaicism and Down’s syndrome (mongolism), J. Pediat. 63: 599, 1963.PubMedCrossRefGoogle Scholar
  16. 16.
    Verresen, H., Van den Berghe, H., and Creemers, J.: Mosaic trisomy in phenotypically normal mother of mongol, Lancet 1: 526, 1964.PubMedCrossRefGoogle Scholar
  17. 17.
    Carr, D.H.: Chromosome studies in abortuses and stillborn infants, Lancet 2: 603, 1963.PubMedCrossRefGoogle Scholar
  18. 18.
    Warkany, J., Weinstein, E.D., Soukup, S.W., Rubinstein, J.H., and Curless, M.C.: Chromosome analysis in a children’s hospital: Selection of patients and results of studies, Pediatrics 33: 290, 1964.PubMedGoogle Scholar
  19. 19.
    Uchida, I.A., Patau, K., and Smith, D.W.: Dermal patterns of 18 and D, trisomics, Am. J. Human Genet. 14: 345, 1962.Google Scholar
  20. 20.
    Warkany, J., Rubinstein, J.H., Soukup, S. W., andCurless, M. C.: Mental retardation, absence of patellae, other malformations with chromosomal mosaicism, J. Pediat. 61: 803, 1962.PubMedCrossRefGoogle Scholar
  21. 21.
    Forteza, G., Baguena, R., Amat, E., Garcia, D., and Juan, A.: Mosaico trisomia D1/normal en una nina de seis ands con un sindrome de trisomia D1 incompleto, Med. Esp. 51: 83, 1964.PubMedGoogle Scholar
  22. 22.
    Stone, D., Akad, A.S., Noyes, C., and Lamson, E.: 13–15 Trisomy mosaicism in a normal-looking 14-year-old retarded girl, J. Med. Genetics (Brit.) 3: 142, 1966.CrossRefGoogle Scholar
  23. 23.
    Court Brown, W.M., Jacobs, P.A., and Brunton, M.: Chromosome studies on randomly chosen men and women, Lancet 2: 561, 1965.PubMedCrossRefGoogle Scholar
  24. 24.
    Moore, K. L.: The genetics of sex determination and sex differentiation in man (historical review and discussion of new ideas), Manitoba Medical Review 42: 497, 1962.Google Scholar
  25. 25.
    Smith, D.W., Patau, K., and Therman, E.: Autosomal trisomy syndromes, Lancet 2: 211, 1961.CrossRefGoogle Scholar
  26. 26.
    Schuster, J., and Motulsky, A.G.: Exceptional sex-chromatin pattern in male pseudo-hermaphroditism with XX/XY/XO mosaicism, Lancet, 1: 1074, 1962.CrossRefGoogle Scholar
  27. 27.
    Klevit, H.D., Mellman, W. J., and Eberlein, W.R.: Triple mosaicism with an isochromosome derived from a partially deleted Y in a male pseudohermaphrodite, Pediatrics 32: 56, 1963.PubMedGoogle Scholar
  28. 28.
    Stone, D„ Akad, A.S., Noyes, C., and Lamson, E.: A multiple mosaic male mental retardate with presumptive 13–15 trisomy mosaicism and D/G translocation (possibly Di/G) (in press).Google Scholar
  29. 29.
    Yerganian, G.: Cytogenetic possibilities with Chinese hamster, Cricetulus barabensis griseus (abstract), Genetics 37: 638, 1952.Google Scholar
  30. 30.
    Yerganian, G., and Leonard, M. J.: Maintenance of normal in situ chromosomal features in long-term tissue cultures, Science 133: 1600, 1961.PubMedCrossRefGoogle Scholar

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© Plenum Press 1967

Authors and Affiliations

  • David Stone

There are no affiliations available

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