Abstract
In 1975, two papers suggested a role for DNA methylation in X chromosome inactivation. In one paper (Riggs, 1975), I argued that: 1) DNA methylation should affect protein-DNA interactions; 2) methylation patterns and a maintenance methylase should exist; and 3) DNA methylation should be involved in mammalian cellular differentiative processes. Holliday and Pugh (1975) argued similarly, although less weight was given to X inactivation and more weight was given to the possibility that 5-methylcytosine (5-meCyt) might be deaminated to thymidine; thus a specific mutational change would be generated, as suggested by Scarano (1971). Recently, several studies of X chromosome inactivation have contributed to the emerging body of evidence supporting a role for DNA methylation in mammalian gene regulation; it is these studies that will be reviewed in this chapter. More comprehensive reviews of X chromosome inactivation have been published recently (Gartler and Riggs, 1983; Graves, 1983).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Chapman VM, Kratzer PG, Siracusa LO, Quarantillo BA, Evans R, Liskay RM: Evidence for DNA modification in the maintenance of X-chromosome inactivation of adult mouse tissues. Proc Natl Acad Sci USA 1983; 79: 5357–5371.
de Jonge AJR, Abrahams PJ, Westerveld A, Bootsma D: Expression of human HPRT gene on the inactive X chromosome after DNA-mediated gene transfer. Nature 1982; 295: 624–626.
Epstein CJ: Expression of the mammalian X chromosome before and after fertilization. Science 1972; 175: 1467–1468.
Gama-Sosa MA, Wang YH, Kuo KC, Gehrke CW, Ehrlich M: The 5-methylcytosine content of high-repeated sequences in human DNA. Nucl Acids Res 1983; 11: 3087–3095.
Gartler SM, Rivest M, Cole RE: Cytological evidence for an inactive X chromosome in murine oogonia. Cytogenet Cell Genet 1980; 28: 203–207.
Gartler SM, Riggs AD: Mammalian X-chromosome inactivation. Annu Rev Genet 1983; 17: 153–190.
Graves JAM: 5-azacytidine-induced reexpression of alleles on the inactive X chromosome in a hybrid mouse cell line. Exptl Cell Res 1982;141:87–94.
Graves JAM: Inactivation and reactivation of the mammalian X chromosome, in Johnson MH (ed): Development in Mammals. Amsterdam, Elsevier Science Publishers, 1983, vol 5.
Holliday R, Pugh JE: DNA modification mechanisms and gene activity during development. Science 1975; 187: 226–232.
Jones PA, Taylor SM, Mohandas T, Shapiro U: Cell cycle-specific reactivation of X-chromosome locus by 5-azadeoxycytidine. Proc Natl Acad Sci USA 1982; 79: 1215–1219.
Kahan, B, DeMars R: Localized derepression on the human inactive X chromosome in mouse-human cell hybrids. Proc. Natl Acad Sci USA 1975; 72: 1510–1514.
Kaput J, Sneider TW: Methylation of somatic vs germ-cell DNAs analyzed by restriction endonuclease digestions. Nucl Acids Res 1979; 7: 2303–2322.
Kratzer PG, Chapman VM X-chromosome reactivation in oocytes of Mus caroli. Proc Natl Acad Sci USA 1981; 78: 3093–3097.
Kratzer PG, Chapman VM, Lambert H, Evans R, Liskay RM: Differences in the DNA of the inactive X chromosome of fetal and extraembryonic tissues of mice. Cell 1983; 33: 37–42.
Lester SC, Korn NJ, DeMars R: Derepression of genes on the human inactive X chromosome: evidence for differences in locus-specific rates of derepression and rates of transfer of active and inactive genes after DNA-mediated transformation. Somatic Cell Genet 1982; 8: 265–284.
Liskay RM, Evans RJ: Inactive X-chromosome DNA does not function in DNA-mediated cell transformation for the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci USA 1980; 177: 4895–4898.
Manes C, Menzel P: Demethylation of CpG sites in DNA of early rabbit trophoblast. Nature (London) 1981; 293: 589–590.
Migeon BR, Wolf SF, Mareni C, Axelman J: Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells. Cell 1982; 29: 595–600.
Mohandas T, Sparkes R, Shapiro LJ: Reactivation of an inactive X chromosome: evidence for X inactivation by DNA methylation. Science 1981; 211: 393–396.
Ohno S, Klinger HP, Atkin NB: Human oogenesis. Cytogenetics 1962; 1: 42–51.
Pages M, Roizes G: Tissue specificity and organization of CpG methylation in calf satellite DNA. Nucl Acids Res 1982; 10: 565–576.
Razin A, Webb C, Szyf M, Yisraeli J, Rosenthal A, Naveh-Many T: Variations in DNA methylation during mouse cell differentiation in vivo and in vitro. Proc Natl Acad Sci USA 1984; 81: 2275–2279.
Riggs, AD: X inactivation, differentiation, and DNA methylation. Cytogenet Cell Genet 1975; 14: 9–25.
Sano H, Sager R: Tissue specificity and clustering of methylated cytosines in bovine satellite I DNA Proc Natl Acad Sci USA 1982; 79: 3584–3588.
Scarano E: The control of gene function in cell differentiation and in embryogenesis. Adv Cytopharmacol 1971; 1: 13–23.
Singer-Sam J, Simmer RL, Keith DH, Shively L, Teplitz M, Itakura K, Gartler SM, Riggs AD: Isolation of a cDNA clone for human X-linked 3-phosphoglerate kinase by use of a mixture of synthetic oligodeoxyribonucleotides as a detection probe. Proc Natl Acad Sci USA 1983; 80: 802–806.
Sturm KS, Taylor JH: Distribution of 5-methylcytosine in the DNA of somatic and germline cells from bovine tissues. Nucl Acids Res 1981; 9: 4537–4546.
Takagi N, Sasaki M: Preferential inactivation of the paternally-derived X chromosome in the extraembryonic membranes of the mouse. Nature (London) 1975; 256: 640–642.
Venolia L, Gartler SM, Wassman ER, Yen P, Mahandas T, Shapiro LJ: Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci USA 1982; 79: 2352–2354.
Venolia L, Gartler SM: Comparison of the transformation frequency of human active and inactive X-chromosome DNA. Nature (London) 1983; 302: 82–83.
Weintraub H, Larsen A, Groudine M: Alpha-globin gene switching during the development of chicken embryos: expression and chromosome structure. Cell 1981; 24: 333–344.
Wolf SF Migeon BR: Studies of X-chromosome DNA methylation in normal human cells. Nature (London) 1982; 295: 667–671.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1984 Springer-Verlag New York Inc.
About this chapter
Cite this chapter
Riggs, A.D. (1984). X Inactivation, DNA Methylation, and Differentiation Revisited. In: Razin, A., Cedar, H., Riggs, A.D. (eds) DNA Methylation. Springer Series in Molecular Biology. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-8519-6_13
Download citation
DOI: https://doi.org/10.1007/978-1-4613-8519-6_13
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4613-8521-9
Online ISBN: 978-1-4613-8519-6
eBook Packages: Springer Book Archive