Skip to main content
SpringerLink
Log in
Book cover

Advances in Human Genetics pp 99–140Cite as

Mammalian X-Chromosome Inactivation

  • Chapter

Part of the book series: Advances in Human Genetics ((AHUG,volume 7))

Abstract

The initial step in mammalian sexual differentiation is based on the XX: XY chromosomal system. In order to function properly, this chromosomal mechanism must be regulated to eliminate the aneuploidy effects in somatic tissues and still insure normal sexual differentiation and development. In mammalian forms, an X-chromosome regulatory mechanism has evolved to carry out these developmental functions. The two X chromosomes in the female germ line remain active through most of their ontogeny to bring about normal ovarian function; a single X chromosome is active in the female soma so as to eliminate gross aneuploidy effects between males and females; and in the male germ line the single X chromosome is inactivated or eliminated at an apparently critical stage in spermiogenesis. This is the broad outline of mammalian X-chromosome regulation. The specifics vary in different forms: random X-chromosome inactivation in most eutherian mammals, a possible nonrandom mechanism in marsupials, and a chromosomal elimination system in the creeping vole, Micron’s oregoni.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliography

  1. Andina, R., 1975, A study of X-chromosome inactivation during oogenesis in the mouse, Ph. D. Thesis, University of Washington, Seattle, Washington.

    Google Scholar 

  2. Austin, C. R., 1966. Sex chromatin in embryonic and fetal tissues, in “The Sex Chromatin” (D. C. Moore, ed.), p. 241, W. B. Saunders, Philadelphia.

    Google Scholar 

  3. Barr, M. L., and Bertram, E. G., 1949, A morphological distinction between neurones of the male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis, Nature 163: 676.

    CAS  PubMed  Google Scholar 

  4. Benditt, E. P., and Benditt, J. M., 1973, Evidence for a monoclonal origin of human atherosclerotic plaques, Proc. Nad. Acad. Sci. U.S.A. 70: 1753.

    CAS  Google Scholar 

  5. Beutler, E., Yeh, M., and Fairbanks, V. F., 1962, The normal human female as a mosaic of X-chromosome activity: studies using the gene for glucose-6-phosphate dehydrogenase deficiency as a marker, Proc. Natl. Acad. Sci. U.S.A. 48: 9.

    CAS  PubMed Central  PubMed  Google Scholar 

  6. Boué, J. G., and Boué, A., 1974, Chromosome abnormalities and abortion, in “Physiology and Genetics of Reproduction” (F. Fuchs and E. M. Coutinho, eds.), Plenum Press, New York.

    Google Scholar 

  7. Brinster, R. L., 1970, Glucose-6-phsophate dehydrogenase activity in the early rabbit and mouse embryo, Biochem. Genet. 4: 669.

    CAS  PubMed  Google Scholar 

  8. Brown, S. W., 1966, Heterochromatin, Science 151: 417.

    CAS  PubMed  Google Scholar 

  9. Brown, S. W., and Chandra, H. S., 1973, Inactivation system of the mammalian X-chromosome, Proc. Natl. Acad. Sci. U.S.A. 70: 195.

    CAS  PubMed Central  PubMed  Google Scholar 

  10. Carr, D. H., 1965, Chromosome studies in spontaneous abortions. Obstet. Gvnecol. 26: 308.

    CAS  Google Scholar 

  11. Carr, D. H., Haggar, R. A., and Hart, A. G., 1968, Germ cells in the ovaries of XO female infants, Am. J. Clin. Pathol. 49: 521.

    CAS  PubMed  Google Scholar 

  12. Cattanach, B. M., 1963, The inactive-X hypothesis and position effects in the mouse (Abstract), Genetics 48: 884.

    Google Scholar 

  13. Cattanach, B. M., 1970, Controlling elements in the mouse X-chromosome. IIl: Influence upon both parts of an X divided by rearrangement, Genet. Res. 16: 293.

    CAS  PubMed  Google Scholar 

  14. Cattanach, B. M., 1974, Position effect variegation in the mouse, Genet. Res. 23: 291.

    CAS  PubMed  Google Scholar 

  15. Cattanach, B. M., 1975, Control of chromosome inactivation, Annn. Rey. Genet. 9: 1.

    CAS  Google Scholar 

  16. Cattanach, B. M., and Isaacson, J. H., 1967, Controlling elements in the mouse X-chromosome, Genetics 57: 331.

    CAS  PubMed Central  PubMed  Google Scholar 

  17. Cattanach, B. M., Perez, J. N., and Pollard, C. E., 1970, Controlling elements in the mouse X-chromosome. II: Location in the linkage map, Genet. Res. 15: 183.

    CAS  PubMed  Google Scholar 

  18. Cattanach, B. M., Pollard, C. E., and Hawkes, S. G., 1971, Sex-reversed mice: XX and XO males, Cytogenetics 10: 318.

    CAS  PubMed  Google Scholar 

  19. Cattanach, B. M., and Williams, C. E., 1972, Evidence of non-random X-chromosome activity in the mouse, Genet. Res. 19: 229.

    CAS  PubMed  Google Scholar 

  20. Chandra, H. S., and Brown, S. W., 1975, Chromosome inprinting and the mammalian X-chromosome, Nature 253:165.

    Google Scholar 

  21. Chapman, V. M., and Shows, T. B., 1976, Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouse, Nature 259: 665.

    CAS  PubMed  Google Scholar 

  22. Clark, J. M., and Eddy, E. M., 1975, Fine structure observations on the origin and associations of primordial germ cells of the mouse, Dec. Biol. 47: 136.

    CAS  Google Scholar 

  23. Comings, D. E., 1966, Uridine-5-H3 radioautography of the human sex chromatin body, J. Cell Biol. 28: 437.

    CAS  PubMed Central  PubMed  Google Scholar 

  24. Comings, D. E., 1967, The duration of replication of the inactive X-chromosome in humans based on the persistence of the heterochromatic sex chromatin body during DNA synthesis, Cytogenetics 6: 20.

    CAS  PubMed  Google Scholar 

  25. Comings, D. E., 1968, The rationale for an ordered arrangement of chromatin in the interphase nucleus, Am. J. Hum. Genet. 20: 440.

    CAS  PubMed Central  PubMed  Google Scholar 

  26. Cook, P. R., 1973, Hypothesis on differentiation and the inheritance of gene superstructure, Nature 245: 23.

    CAS  PubMed  Google Scholar 

  27. Cooper, D. W., 1971, A directed genetic change model for X-chromosome inactivation in eutherian mammals, Nature 230: 292.

    CAS  PubMed  Google Scholar 

  28. Cooper, D. W., Johnston, P. G., Murtagh, C. E., and Vandenberg, J. L., 1975, Sex chromosome evolution and activity in mammals, particularly kangaroo, in “The Eukaryote Chromosome” (W. J. Peacock and R. D. Brock. eds. ), Australian Natl. University Press.

    Google Scholar 

  29. Cooper, D. W., Johnston, P. G., Murtagh, C. E., Sharman, G. B., Vandenberg, J. L., and Poole, W. E., Sex-linked isozymes and sex chromosome evolution and inactivation in Australian marsupials and monotremes, Proc. 3rd Int. Lsoenzvme Conf.,Yale, in press.

    Google Scholar 

  30. Crump, I. A., and Danks, D. M., 1971, Hypohidrotic ectodermal dysplasia, J. Pediatr. 78: 466.

    CAS  PubMed  Google Scholar 

  31. Curtis, D. J., 1969, Sex chromatin frequency in buccal mucosal tissue: the normal female population, Cytogenetics 8: 20.

    CAS  PubMed  Google Scholar 

  32. Danes, B. S., and Beam, A. G., 1967, Hurler’s syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis, J. Exp. Med. 126: 509.

    CAS  PubMed Central  PubMed  Google Scholar 

  33. Davidson, R. G., Nitowsky, H. M., and Childs, B., 1963, Demonstration of two populations of cells in the human female heterozygous for glucose-6-phosphate dehydrogenase variants, Proc. Natl. Acad. Sci. U.S.A. 50: 481.

    CAS  PubMed Central  PubMed  Google Scholar 

  34. De Mars, R., 1967, The single-active X: functional differentiation at the chromosome level, Natl. Cancer Inst. Monogr. 26: 327.

    Google Scholar 

  35. Deol, M. S., and Whitten, N. K., 1972, X-chromosome inactivation: does it occur at the same time in all cells of the embryo? Nature (London) New Biol. 240: 277.

    CAS  Google Scholar 

  36. Drews, U., Blecher, S. R., Owen, D. A., and Ohno, S., 1974, Genetically directed prefential X-inactivation seen in mice, Cell 1: 3.

    Google Scholar 

  37. Ducos, J., Marty, Y., Sanger, R., and Race, R. R., 1971, Xg and X-chromosome inactivation, Lancet ii, 219.

    Google Scholar 

  38. Eicher, E. M., 1970, X-autosome translocations in the mouse: total inactivation versus partial inactivation of the X-chromosome, Adv. Genet. 15: 175.

    CAS  PubMed  Google Scholar 

  39. Eicher, E. M., Nesbitt, M. N., and Francke, U., 1972. Cytological identification of the chromosomes involved in Searle’s translocation and the location of the centromere in the X chromosome of the mouse, Genetics 71: 643.

    CAS  PubMed Central  PubMed  Google Scholar 

  40. Epstein, C. J., 1969, Mammalian oocytes: X-chromosome activity, Science 163: 1078.

    CAS  PubMed  Google Scholar 

  41. Epstein, C. J., 1972, Expression of the mammalian X-chromosome before and after fertilization, Science 175: 1467.

    CAS  PubMed  Google Scholar 

  42. Falconer, D. S., and Isaacson, J. H., 1972, Sex-linked variegation modified by selection in brindled mice, Genet. Res. 20: 291.

    CAS  PubMed  Google Scholar 

  43. Farber, R. A., and Liskay, R. M., 1974, Karyotypic analysis of a near-diploid established mouse cell line, Cytogenet. Cell Genet. 13: 384.

    CAS  PubMed  Google Scholar 

  44. Fellous, M., Bengtsson, B. B., Finnegan, D., and Bodmer, W. F., 1974, Expression of the Xga antigen on cells in culture, and its segregation in somatic cell hybrids, Ann. Hum. Genet. 37: 421.

    CAS  PubMed  Google Scholar 

  45. Fellous, M., Pearson, P. L., van der Linden, A. G. T. M., Miera Kan, P., and Hagemeyer, A., 1975, Mapping the Xga red blood cell antigen in human-Chinese hamster cell hybrids—the Xg locus is possibly located on the short arm of the X-chromosome, Cell Cytogenetics 14: 293.

    CAS  Google Scholar 

  46. Ferguson-Smith, M. A., 1959, The prepubertal testicular lesion in chromatin-positive Klinefelter’s syndrome (primary microochidism) as seen in mentally handicapped children, Lancet i:219.

    Google Scholar 

  47. Ferguson-Smith, M. A., 1965, Karyotype–phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations, J. Med. Genet. 2: 142.

    CAS  PubMed Central  PubMed  Google Scholar 

  48. Ferguson-Smith, M. A., 1966, Sex-chromatin, Klinefelter’s syndrome and mental deficiency, in “The Sex Chromatin” (K. L. Moore, ed.), p. 277, W. B. Saunders, Philadelphia.

    Google Scholar 

  49. Fialkow, P. J., 1970, X-chromosome inactivation and the Xg locus, Am. J. Hum. Genet. 22: 460.

    CAS  PubMed Central  PubMed  Google Scholar 

  50. Fialkow, P. J., 1973, Primordial cell pool size and lineage relationships of five human cell types, Ann. Hum. Genet. 37: 39.

    CAS  PubMed  Google Scholar 

  51. Fialkow, P. J., Gartler, S. M., and Yoshida, A., 1967, Clonal origin of chronic myelocytic leukemia in man, Proc. Natl. Acad. Sci. U.S.A. 58: 1468.

    Google Scholar 

  52. Fialkow, P. J., Lisker, R., Giblett, E. R., and Zavala, C., 1970, Xg locus: failure to detect inactivation in females with chronic myelocytic leukemia, Nature 226: 367.

    CAS  PubMed  Google Scholar 

  53. Frias, J. L., and Smith, D. W., 1968, Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment, J. Pediatr. 72: 606.

    CAS  PubMed  Google Scholar 

  54. Gardner, R. L., and Lyon, M. F., 1971, X-chromosome inactivation studied by injection of a single cell into the mouse blastocyst, Nature 231: 385.

    CAS  PubMed  Google Scholar 

  55. Gartler, S. M., 1974, Utilization of mosaic systems in the study of the origin and progression of tumors, in “Chromosomes and Cancer” (J. German, ed.), p. 314, Wiley–Interscience, New York.

    Google Scholar 

  56. Gartler, S. M., X-chromosome inactivation and selection in somatic cells, Federation Proc.,in press.

    Google Scholar 

  57. Gartler, S. M., Andina, R., and Gant, N., 1975, Ontogeny of X-chromosome inactivation in the female germ line, Exp. Cell Res. 91: 454.

    CAS  PubMed  Google Scholar 

  58. Gartler, S. M., and Burt, B., 1964, Replication pattern of bovine sex chromosomes in cell culture, Cytogenetics 3: 135.

    CAS  PubMed  Google Scholar 

  59. Gartler, S. M., and Burt, B., 1965, Chromosome replication pattern in an established bovine cell line, Cytogenetics 4: 81.

    CAS  PubMed  Google Scholar 

  60. Gartler, S. M., Chen, S., Fialkow, P. J., and Giblett, E. R., 1972, X-chromosome inactivation in cells from an individual heterozygous for two X-linked genes, Nature (London) New Biol. 236: 149.

    CAS  Google Scholar 

  61. Gartler, S. M., Gandini, E., Angioni, G., and Argiolas, N., 1969, Glucose-6phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells, Ann. Hum. Genet. 33: 171.

    CAS  PubMed  Google Scholar 

  62. Gartler, S. M., Gandini, E., Hutchison, H. T., Campbell, B., and Zechhi, G., 1971, Glucose-6-phosphate dehydrogenase mosaicism: Utilization in the study of hair follicle variegation, Ann. Hum. Genet. 35:1.

    Google Scholar 

  63. Gartler, S. M., and Linder, D., 1964, Selection in mammalian mosaic cell populations, Cold Spring Harbor Symp. Quant. Biol. 29: 253.

    CAS  PubMed  Google Scholar 

  64. Gartler, S. M., Liskay, R. M., Campbell, B. K., Sparkes, R., and Gant, N., 1972, Evidence for two functional X-chromosomes in human oocytes, Cell Differ. 1: 215.

    CAS  PubMed  Google Scholar 

  65. Gartler, S. M., Liskay, R. M., and Gant, 1973, Two functional X-chromosomes in human foetal oocytes, Exp. Cell Res. 82: 464.

    CAS  PubMed  Google Scholar 

  66. Gartler, S. M., Liskay, R. M., and Hauschka, S. D., Unpublished observations.

    Google Scholar 

  67. Gartler, S. M., and Nesbitt, M. N., 1970, Sex chromosome markers as indication in embryonic development, Adv. Biosci. 6: 225.

    Google Scholar 

  68. Gartler, S. M., Scott, R. C., Goldstein, J. L., Campbell, B.. and Sparkes, R., 1971, Lesch—Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles, Science 172: 572.

    CAS  PubMed  Google Scholar 

  69. German, J., 1962, DNA synthesis in human chromosomes, Trans. N.Y. Acad. Sci. 24: 395.

    CAS  Google Scholar 

  70. Goldstein, J. L., Marks, J. F., and Gartler, S. M., 1971, Expression of two X-linked genes in human hair follicles of double heterozygotes, Proc. Natl. Acad. Sci. U.S.A. 68: 1425.

    CAS  PubMed Central  PubMed  Google Scholar 

  71. Grumbach, M. M., Morishima, A., and Taylor, J. H., 1963, Human sex chromosome abnormalities in relation to DNA replication and heterochromatinization, Proc. Natl. Acad. Sci. U.S.A. 49: 581.

    CAS  PubMed Central  PubMed  Google Scholar 

  72. Hamerton, J. L., 1968, Significance of sex chromosome derived heterochromatin in mammals. Nature 219: 910.

    CAS  PubMed  Google Scholar 

  73. Hill, R. N., and Yunis, J. J., 1967, Mammalian X-chromosomes: change in pattern of DNA replication during embryogenesis, Science 155: 1120.

    CAS  PubMed  Google Scholar 

  74. Holliday, R., and Pugh, J. E., 1975, DNA modification mechanisms and gene activity during development, Science 187: 226.

    CAS  PubMed  Google Scholar 

  75. Hoppe, P. C., and Whitten, W. K., 1972, Does X-chromosome inactivation occur during mitosis of first cleavage? Nature 239: 520.

    CAS  PubMed  Google Scholar 

  76. Illmensee, K., and Mahowald, A. P., 1974, Transplanatation of posterior polar plasm in Drosophila. Induction of germ cells at the anterior pole of the egg, Proc. Natl. Acad. Sci. U.S.A. 71: 1016.

    CAS  PubMed Central  PubMed  Google Scholar 

  77. Issa, M., Blank, C. E., and Atherton, G. W., 1969, The temporal appearance of sex chromatin and of the late replicating X-chromosome in blastocysts of the domestic rabbit, Cytogenetics 8: 219.

    CAS  PubMed  Google Scholar 

  78. Kahan, B., and De Mars, R., 1975, Localized derepression on the human inactive X-chromosome in mouse—human cell hybrid, Proc. Natl. Acad. Sci. U.S.A. 72: 1510.

    CAS  PubMed Central  PubMed  Google Scholar 

  79. Kerr, C. B., Wells, R. S., and Cooper, K. E., 1966, Gene effect in carriers of anhidrotic ectodermal dysplasia, J. Med. Genet. 3: 169.

    CAS  PubMed Central  PubMed  Google Scholar 

  80. Kinsey, J. D., 1967, X-chromosome replication in early rabbit embryos, Genetics 55: 337.

    CAS  PubMed Central  PubMed  Google Scholar 

  81. Klinger, H. P., Davis, J., Goldhuber, P., and Ditta, T., 1968, Factors influencing mammalian X-chromosome condensation and sex chromatin formation. I. The effect of in vitro cell density on sex chromatin frequency, Cytogenetics 7: 39.

    Google Scholar 

  82. Klinger, H. P., Lindsten, J., Fraccaro, M., Barrai, I., and Dolinar, Z. J., 1965, DNA content and area of sex chromatin in subjects with structural and numerical aberrations of the X-chromosome, Cytogenetics 4: 96.

    CAS  PubMed  Google Scholar 

  83. Klinger, H. P., Schwarzacher, H. G., and Weiss, J., 1967, DNA content and size of sex chromatin-positive female nuclei during the cell cycle, Cytogenetics 6: 1.

    CAS  PubMed  Google Scholar 

  84. Kozak, L. P., McLean, G. K., and Eicher, E. M., 1974, X linkage of phosphoglycerate kinase in the mouse, Biochem. Genet. 11: 41.

    CAS  PubMed  Google Scholar 

  85. Kozak, L. P., and Quinn, P. J., 1975, Evidence for dosage compensation of an X-linked gene in the 6-day embryo of the mouse, Der. Biol. 45: 65.

    CAS  Google Scholar 

  86. Lehninger, A. L., 1970, “Biochemistry,” p. 357, Worth, New York.

    Google Scholar 

  87. Leisti, J. T., Kaback, M. M., and Rimoin, D. L., 1975, Human X-autosome translocations: differential inactivation of the X-chromosome in a kindred with an X9 translocation, Am. J. Hum. Genet. 27: 441.

    CAS  PubMed Central  PubMed  Google Scholar 

  88. Lifschytz, E., and Lindsley, D. L., 1972, The role of X-chromosome inactivation during spermatogenesis, Proc. Natl. Acad. Sci. U.S.A. 69: 182.

    CAS  PubMed Central  PubMed  Google Scholar 

  89. Lifschytz, E., and Lindsley, D. L., 1974, Sex chromosome activation during spermatogenesis, Genetics 78: 323.

    CAS  PubMed Central  PubMed  Google Scholar 

  90. Linder, D., and Gartler, S. M., 1965, Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas, Science 150: 67.

    CAS  PubMed  Google Scholar 

  91. Linder, D., and Gartler, S. M., 1965, Distribution of glucose-6-phosphate dehydrogenase electrophoretic variants in different tissues of heterozygotes, Am. J. Horn. Genet. 17: 212.

    CAS  Google Scholar 

  92. Lindsley, D. L., Sandler, L., Baker, B. S., Carpenter, A. T. C., Denell, R. E., Hall, J. C., Jacobs, P. A., Miklos, G. L. G., Davis, B. K., Gethmann, R. C., Hardy, R. W., Hessler, A., Miller, S. M., Nozawa, H., Parry, D. M., and Gould-Somero, M., 1972, Segmental aneuploidy and the genetic gross structure of the Drosphila genome, Genetics 71: 157.

    CAS  PubMed Central  PubMed  Google Scholar 

  93. Lucchesi, J. C., 1973, Dosage compensation in Drosophila, Anno. Rev. Genet. 7: 225.

    CAS  Google Scholar 

  94. Lyon, M. F., 1961, Gene action in the X-chromosome of the mouse (Mus musculus L), Nature 190: 372.

    CAS  PubMed  Google Scholar 

  95. Lyon, M. F., 1962, Sex-chromatin and gene action in the mammalian X-chromosome, Am. J. Hum. Genet. 14: 135.

    CAS  PubMed Central  PubMed  Google Scholar 

  96. Lyon, M. F., 1963, Attempts to test the inactive-X theory of dosage compensation in mammals, Genet. Res. 4: 93.

    Google Scholar 

  97. Lyon, M. F., 1970. Genetic activity of sex chromosomes in somatic cells of mammals, Philos. Trans. R. Soc. Land. Ser. B 259: 41.

    CAS  Google Scholar 

  98. Lyon, M. F., 1972, X-chromosome inactivation and developmental patterns in mammals, Biol. Rev. 47:1.

    Google Scholar 

  99. Lyon, M. F., 1974, Evolution of X-chromosome inactivation in mammals, Nature 250: 651.

    CAS  PubMed  Google Scholar 

  100. Lyon, M. F., 1974, Mechanisms and evolutionary origins of variable X-chromosome activity in mammals, Proc. R. Soc. Load. Ser. B 187: 243.

    CAS  Google Scholar 

  101. Lyon, M. F., 1974, Sex chromosome activity in germ cells, in “Physiology and Genetics of Reproduction” (E. M. Coutinho and F. Fuchs, eds.), Part A, p. 63, Plenum Press, New York.

    Google Scholar 

  102. Lyon, M. F., and Glenister, P. H., 1974, Evidence from Tfìn/0 that androgen is inessential for reproduction in female mice, Nature 247: 366.

    CAS  PubMed  Google Scholar 

  103. Lyon, M. F., and Hawker, S. G., 1973, Reproductive lifespan in irradiated and unirradiated chromosomally XO mice, Genet. Res. 21: 185.

    CAS  PubMed  Google Scholar 

  104. McLaren, A., 1972, Germ cell differentiation in artificial chimaeras of mice, in The Genetics of the Spermatozoan“ (R. A. Beatty and S. Glueksohn-Waelsch, eds.), p. 313, Edinburgh, New York.

    Google Scholar 

  105. McLaren, A., Chandley, A. C., and Kofman-Affaro, S., 1972, A study of meiotic germ cells in the gonads of foetal mouse chimaeras, J. Emhrvol. Exp. Morphol. 27: 515.

    CAS  Google Scholar 

  106. Mangia, F., Abbo-Halbasch, G., and Epstein, C. J., 1975, X chromosome expression during oogenesis in the mouse, Dey. Biol. 45: 366.

    CAS  Google Scholar 

  107. Meyer, W. J., III, Migeon, B. R., and Migeon, C. J., 1975, Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity, Proc. Natl. Acad. Sci. U.S.A. 72: 1469.

    PubMed Central  PubMed  Google Scholar 

  108. Migeon, B. R., 1972, Stability of X chromosomal inactivation in human somatic cells, Nature 239: 87.

    CAS  PubMed  Google Scholar 

  109. Migeon, B. R., and Huijing, F., 1974, Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. Am. J. Hum. Genet. 26: 360.

    CAS  PubMed Central  PubMed  Google Scholar 

  110. Migeon, B. R., Kaloustian, V. M. der, Nyhan, W. L., Young. W. J., and Childs, B., 1968, X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations, Science 160: 425.

    CAS  PubMed  Google Scholar 

  111. Migeon, B. R., and Kennedy, J. F., 1975, Evidence for the inactivation of an X chromosome early in the development of the human female, Am. J. Hum. Genet. 27: 233.

    CAS  PubMed Central  PubMed  Google Scholar 

  112. Mitchison. J. M., 1971, “The Biology of the Cell Cycle,” Cambridge University Press, Cambridge.

    Google Scholar 

  113. Monesi, V., 1965, Differential rate of ribonucleic acid synthesis in the autosomes and sex chromosomes during male meiosis in the mouse, Chrornosoma 17: 11.

    CAS  Google Scholar 

  114. Morris, T., 1968, The XO and OY chromosome constitutions in the mouse, Genet. Res. 12: 125.

    CAS  PubMed  Google Scholar 

  115. Moses, M. J., Counce, S. J., and Paulson, D. F., 1975, Synaptonemal complex complement of man in spreads of spermatocytes with details of the sex chromosome pair, Science 187: 363.

    CAS  PubMed  Google Scholar 

  116. Muller. H. J., 1950, Evidence of the precision of genetic adaptation, Harvey Lect. XLIII: 1.

    Google Scholar 

  117. Muller, H. J., League, B. B., and Offermann, C. A., 1931, Effects of dosage changes of sex-linked genes, and the compensatory effects of other gene differences between male and female (Abstract), Anat. Rec. (Suppl.) 51: 11D.

    Google Scholar 

  118. Mystkowska, E. T., and Tarkowski, A. K., 1970, Behavior of germ cells and sexual differentiation in late embryonic and early postnatal mouse chimaeras, J. Embryo!. Exp. Morphol. 23: 395.

    CAS  Google Scholar 

  119. Nesbitt, M. N., 1971, X chromosome inactivation mosaicism in the mouse, Dey. Biol. 26: 252.

    Google Scholar 

  120. Nesbitt, M. N., 1974, Chimeras vs. X inactivation mosaics: significance of differences in pigment distribution, Dey. Biol. 38: 202.

    CAS  Google Scholar 

  121. Nesbitt, M. N., and Francke, U., 1973, A system of nomenclature for band patterns of mouse chromosomes, Chromosoma 41: 145.

    CAS  PubMed  Google Scholar 

  122. Nesbitt, M. N., and Gartler, S. M., 1970, Replication of the mouse sex chromosomes early in the S period, Cytogenetics 9: 212.

    CAS  PubMed  Google Scholar 

  123. Nesbitt, M. N., and Gartler, S. M., 1971, The applications of genetic mosaicism to developmental problems, Anna. Rev. Genet. 5: 143.

    CAS  Google Scholar 

  124. Nyhan, W. L., Bakay, B., Connor, J. D., Marks, J. F., and Keele. D. K., 1970, Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch—Nyhan syndrome, Proc. Natl. Acad. Sci. U.S.A. 65: 214.

    CAS  PubMed Central  PubMed  Google Scholar 

  125. Odartchenko, N., and Pavillard, M., 1970. Late DNA replication in male mouse meiotic chromosomes, Science 167: 1133.

    CAS  PubMed  Google Scholar 

  126. Ohno. S., 1964, Life history of female germ cells in mammals. Proc. 2nd /nt. Conf. Congenital Malformations Nall. Found., 36.

    Google Scholar 

  127. Ohno, S., 1967, “Sex Chromosomes and Sex-Linked Genes,” Springer, Berlin.

    Google Scholar 

  128. Ohno, S., 1971, Simplicity of mammalian regulatory systems inferred by single gene determination of sex phenotypes, Nature 234: 134.

    CAS  Google Scholar 

  129. Ohno. S., 1973, Conservation of ancient linkage groups in evolution and some insight into the genetic regulatory mechanism of X-inactivation, Cold Spring Harbor Symp. Quant. Biol. 38: 155.

    Google Scholar 

  130. Ohno, S., and Cattanach, B. M., 1962, Cytological study of an X-autosome translocation in Mus musculus, Cytogenetics 1: 129.

    CAS  PubMed  Google Scholar 

  131. Ohno, S., Christian, L., and Attardi, B., 1973, Role of testosterones in normal female function, Nature (London) New Biol. 243: 119.

    CAS  Google Scholar 

  132. Ohno, S., Christian, L., Attardi, B. J., and Kan, J., 1973, Modification of expression of the testicular feminization (Tfm) gene of the mouse by a “controlling element” gene, Nature (London) New Biol. 245: 92.

    Google Scholar 

  133. Ohno, S., Geller, L. N., and Kan, J., 1974, The analysis of Lyon’s hypothesis through preferential X-inactivation, Cell 1: 175.

    Google Scholar 

  134. Ohno, S., Kaplan, W. D., and Kinosita, R., 1959, Formation of the sex chromatin by a single X chromosome in liver cells of Rattus norvegicus, Exp. Cell Res. 18: 415.

    CAS  PubMed  Google Scholar 

  135. Ohno, S., Kaplan, W. D., and Kinosita, R., 1961, X chromosome behavior in germ and somatic cells of Rattus norvegicus, Exp. Cell Res. 22: 535.

    CAS  PubMed  Google Scholar 

  136. Ohno, S., Klinger, H. P., and Atkin, N. B., 1962, Human oogenesis, Cytogenetics 1: 42.

    CAS  PubMed  Google Scholar 

  137. Ohno, S., Stenius, C., and Christian, L., 1966, The XO as the normal female in the creeping vole (Microtus oregoni), in “Chromosomes Today” (C. D. Darlington and K. R. Lewis, eds.), Oliver and Boyd, Edinburgh.

    Google Scholar 

  138. Passarge, E., and Fries, E., 1973, X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia, Nature (London) New Biol. 245: 58.

    CAS  Google Scholar 

  139. Pathak, S., and Stock, A. D., 1974, The X chromosomes of mammals: karyological homology as revealed by banding techniques, Genetics 78: 703.

    CAS  PubMed Central  PubMed  Google Scholar 

  140. Plotnick, F., Klinger, H. P., and Kosseff, A. L., 1971, Sex-chromatin formation in pre-implantation rabbit embryos, Cytogenetics 10: 244.

    CAS  PubMed  Google Scholar 

  141. Polani, P. E., Angell, R., Giannelli, F., de la Chapelle, A., Race, R. R., and Sanger, R., 1970, Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes, Nature 227: 613.

    CAS  PubMed  Google Scholar 

  142. Race, R. R., 1971, Is the Xg blood group locus subject to inactivation? Proc. 4th Int. Congr. Hum. Genet., 312.

    Google Scholar 

  143. Rao, S. R. V., and Jhanwar, S. C., 1975, Is late replication of the inactive X chromosome irreversible in all cells of mammals? Cytogenet. Cell Genet. 14: 140.

    CAS  PubMed  Google Scholar 

  144. Rao, S. R. V., Sharma, V. K., and Shah, V. C., 1970, DNA synthesis in duplicate-type sex chromosomes of the Indian house shrew, Suncus nuurinus (Insectivora), Cytogenetics 9: 384.

    CAS  PubMed  Google Scholar 

  145. Rattazzi, M. C., and Cohen, M. M., 1972, Further proof of genetic inactivation of the X chromosome in the female mule, Nature 237: 393.

    CAS  PubMed  Google Scholar 

  146. Ray, M., Gee, P. A., Richardson, B. J., and Hamerton, J. L., 1972, G6PD expression and X chromosome late replication in fibroblast clones from a female mule, Nature 237: 396.

    CAS  Google Scholar 

  147. Riggs, A. D., 1975, X inactivation, differentiation, and DNA methylation, Cytogenet. Cell Genet. 14: 9.

    CAS  PubMed  Google Scholar 

  148. Romeo, G., and Migeon, B. R., 1970, Genetic inactivation of the a-galactosidase locus in carriers of Fabrys’ disease, Science 170: 180.

    CAS  PubMed  Google Scholar 

  149. Russell, L. B., 1961, Genetics of mammalian sex chromosomes, Science 133: 1795.

    CAS  PubMed  Google Scholar 

  150. Russell, L. B., 1971, Attempts to demonstrate different inactivating states for normal mouse X chromosomes, Genetics 68: S55.

    Google Scholar 

  151. Sager, P., and Kitchin, R., 1975, Selective silencing on eukaryotic DNA, Science 189: 426.

    CAS  PubMed  Google Scholar 

  152. Salzmann, J., De Mars, R., and Benke, P., 1968, Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells, Proc. Natl. Acad. Sci. U.S.A. 60: 545.

    CAS  PubMed Central  PubMed  Google Scholar 

  153. Sandler, L., and Hecht, F., 1973, Genetic effects of aneuploidy, Am. J. Hum. Genet. 25: 332.

    CAS  PubMed Central  PubMed  Google Scholar 

  154. Sarto, G. E., 1973, Cytogenetics of fifty patients with primary amenorrhea, Am. J. Obstet. Gynecol. 119: 14.

    Google Scholar 

  155. Sarto, G. E., Therman, E., and Patau, K., 1973, X inactivation in man: a woman with t (Xq—; 12 q+), Am. J. Hum. Genet. 25: 262.

    CAS  PubMed Central  PubMed  Google Scholar 

  156. Schneider, L. K., and Rieke, W. O., 1967, DNA replication patterns and chromosomal protein synthesis in opossum lymphocytes in vitro, J. Cell Biol. 33: 497.

    CAS  PubMed Central  PubMed  Google Scholar 

  157. Singh, R. P., and Carr, D. H., 1966, The anatomy and histology of XO human embryos and fetuses, Anat. Rec. 155: 369.

    CAS  PubMed  Google Scholar 

  158. Steele, M. W., and Migeon, B. R., 1973, Sex differences in activity of glucose-6phosphate dehydrogenase from cultured human fetal lung cells despite X-inactivation, Biochem. Genet. 9: 163.

    CAS  PubMed  Google Scholar 

  159. Steele, M. W., and Owens, K. E., 1973, Developmental, tissue-specific, and sex differences in activity among three enzymes from human erythrocytes and cultured fibroblasts, Biochem. Genet. 9: 147.

    CAS  PubMed  Google Scholar 

  160. Stern, C., 1960, Dosage compensation—development of a concept and new facts, Can. J. Genet. Cytol. 2: 105.

    Google Scholar 

  161. Sturtevant, A. H., 1929, The claret mutant type of Drosophila simulans: a study of chromosome elimination and cell-lineage, Z. Wiss. Zool. Abt. A. 135: 323.

    Google Scholar 

  162. Takagi, N., 1974, Differentiation of X chromosomes in early female mouse embryos. Exp. Cell Res. 86: 127.

    CAS  PubMed  Google Scholar 

  163. Takagi, N., and Oshimura, M., 1973, Fluorescence and giemsa banding studies of the allocyclic X chromosome in embryonic and adult mouse cells. Exp. Cell. Res. 78: 127.

    CAS  PubMed  Google Scholar 

  164. Takagi, N., and Sasake, M., 1975, Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256: 640.

    CAS  PubMed  Google Scholar 

  165. Tennes, K., Puck, M., Bryant, K., Frankenburg, W., and Robinson, A., 1975, A developmental study of girls with trisomy X, Ant. J. Hum. Genet. 27: 71.

    CAS  Google Scholar 

  166. Teplitz, R., and Ohno, S., 1963, Postnatal induction of ovogenesis in the rabbit (Oryctolagus cuniculus), Exp. Cell. Res. 31: 183.

    Google Scholar 

  167. Therman, E., and Patau, K., 1974, Abnormal X chromosomes on man: origin, behavior, and effects, Humangenetik 25: 1.

    CAS  PubMed  Google Scholar 

  168. Therman, E., Sarto, G. E., and Patau, F., 1974, Center for Barr body condensation on the proximal part of the human Xq: a hypothesis, Chromosorna 44: 361.

    CAS  Google Scholar 

  169. Tiepolo, L., Fraccaro, M., Hulten, M., Lindsten, J., Mannini. A., and Ming, P. L., 1967, Timing of sex chromosome replication in somatic and germ line cells of the mouse and rat, Cytogenetic 6: 51.

    CAS  Google Scholar 

  170. Vandenberg, J. L., Cooper, D. W., and Sharman, G. B., 1973, Phosphoglycerate kinase. A polymorphism in the wallaby, Macropus parryi: activity of both X chromosomes in muscle, Nature (London) New. Biol. 243: 47.

    Google Scholar 

  171. Weaver, D. D., Gartler, S. M., Boue, A., and Boue, J. G., 1975, Evidence for two active X-chromosomes in a human XXY triploid, Humangenetik 28: 39.

    CAS  PubMed  Google Scholar 

  172. Witkop, C. J., 1967, Partial expression of sex linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis, Oral Surg. Oral Med. Oral Pathol. 23: 121.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Medicine and Genetics, University of Washington, Seattle, Washington, USA

    Stanley M. Gartler & Robert J. Andina

Authors
  1. Stanley M. Gartler
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Robert J. Andina
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

Rights and permissions

Reprints and permissions

Copyright information

© 1976 Springer Science+Business Media New York

About this chapter

Cite this chapter

Gartler, S.M., Andina, R.J. (1976). Mammalian X-Chromosome Inactivation. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 7. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0659-8_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-0659-8_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-0661-1

  • Online ISBN: 978-1-4757-0659-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation