Abstract
A new X chromosome–specific repetitive sequence, a 3 kilobase HindIII clone with a base composition of 63% C+G, has been isolated. The sequence is organized as a hypervariable tandem repeat cluster ranging in size from 150–350 kilobases, with outlying single copies. This locus, designated DXZ4 and mapped to chromosome band Xq24, may consist of as many as 50 variable–length alleles. It represents a class of variable number of tandem repeat polymorphism which may be termed ‘macrosatellite’. The cluster is highly methylated on the active X chromosome and hypomethylated on the inactive X.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Schmid, C.W. & Deininger, P.L. Cell 6, 345–358 (1975).
Schmid, C.W. & Jelinek, W.R. Science 216, 1065–1070 (1982).
Willard, H.F. & Waye, J.S. Trends Genet. 3, 192–198 (1987).
Moyzis, R.K. et al. Proc. natn. Acad. Sci. U.S.A. 85, 6622–6626 (1988).
Waye, J.S. & Willard, H.F. Proc. natn. Acad. Sci. U.S.A. 86, 6250–6254 (1989).
Jeffreys, A.J., Wilson, V. & Thein, S.L. Nature 314, 67–73 (1985).
Edwards, A., Civitello, A., Hammond, H.A. & Caskey, C.T. Am. J. hum. Genet. 49, 746–756 (1991).
Weber, J.L. & May, P.E. Am. J. hum. Genet. 44, 388–396 (1989).
Buroker, N., Bestwick, R., Haight, G., Magenis, R.E. & Litt, M. Hum. Genet. 77, 175–181 (1987).
Epstein, N.D. et al. Nucleic Acids Res. 15, 2327–2341 (1987).
Lindgren, M. & Francke, U. Nature 314, 115–116 (1985).
Fanning, T.G. & Singer, M.F. Biochim. Biophys. Acta 910, 203–212 (1987).
Houck, C.M., Rinehart, F.P. & Schmid, C.W. J. molec. Biol. 132, 289–306 (1979).
Bonner, T.I., O'Connell, C. & Cohen, M. Proc. natn. Acad. Sci. U.S.A. 79, 4709–4713 (1982).
Mager, D.L. & Henthorn, P.S. Proc. natn. Acad. Sci. U.S.A. 81, 7510–7514 (1984).
Sun, L.,, Paulson, K.E., Schmid, C. W., Kadyk, L. & Leinwand, L. Nucleic Acids Res. 12, 2669–2690 (1984).
Korenberg, R. & Rykowski, M.C. Cell 53, 391–400 (1988).
Britten, R.J., Baron, W.F., Stout, D.B. & Davidson, E.H. Proc. natn. Acad. Sci. U.S.A. 85, 4770–4774 (1988).
Dombroski, B.A., Mathias, S.L., Nanthakumar, E., Scott, A.F. & Kazazian, H.H., Jr., Science 254, 1805–1808 (1991).
Mathias, S.L., Scott, A.F., Kazazian, H.H., Jr., Boeke, J. D. & Gabriel, A. Science 254, 1808–1810 (1991).
Lichter, P., Jauch,A., Cremer, T. & Ward, D.C. in Progress in Clinical and Biological Research (eds Patterson, D. & Epstein, C.J.) 360, 69–78 (Wiley-Liss, New York, 1990).
Grifo, J.A. et al. Am. J. Obstet. Gynecol. 163, 2013–2019 (1990).
Devilee, P. et al. Cancer Res. 48, 5825–5830 (1988).
Hagelberg, E., Gray, I.C. & Jeffreys, A.J. Nature 352, 427–429 (1991).
Nakamura, Y. et al. Science 235, 1616–1622 (1987).
Kunkel, L.M., Tantravahi, U., Eisenhard, M. & Latt, S.A. Nucleic Acids Res. 10, 1557–1578 (1982).
Wieacker, P. et al. Am. J. hum. Genet. 36, 265–276 (1984).
Francke, U. & Oliver, N. Hum. Genet. 45, 137–165 (1978).
Francke, U. Cytogenet. Cell Genet. 31, 24–32 (1981).
Nakamura, Y. et al. Nucleic Acids Res. 15, 2537–2547 (1987).
Tyler-Smith, C., Taylor, L. & Müller, U. J. molec. Biol. 203, 837–848 (1988).
Müller, U. et al. Hum. Genet. 74, 24–29 (1986).
Viegas-Pequignot, E., Dutrillaux, B.G. & Thomas, G. Proc. natn. Acad. Sci. U.S.A. 85, 7657–7660 (1988).
Brown, C.J. et al. Nature 349, 82–84 (1991).
Pearson, S.J., Tetri, R., George, D.L. & Francke, U., Somat. Cell Genet. 9, 567–592 (1983).
de Martinville, B. et al. Am. J. hum. Genet. 37, 235–249 (1985).
Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).
Yang-Feng, T.L., DeGennaro, L.J. & Francke, U. Proc. natn. Acad. Sci. U.S.A. 83, 8679–8683 (1986).
Giacalone, J. & Francke, U. Am. J. hum. Genet. (in the press).
Herrmann, B.G., Barlow, D.P. & Lehrach, H. Cell 48, 813–825 (1987).
Harper, M.E. & Saunders, G.F. Chromosoma 83, 431–439.
Yang-Feng, T.L., Floyd-Smith, G., Nemer, M., Drouin, J. & Francke, U. Am. J. hum. Genet. 37, 1117–1128 (1985).
Lichter, P. et al. Science 247, 64–69 (1990).
Milatovich, A., Travis, A., Grosschedl, R. & Francke, U. Genomics 11, 1040–1048 (1991).
Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
Francke, U. Cytogenet. Cell Genet. 38, 298–307 (1984).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Giacalone, J., Friedes, J. & Francke, U. A novel GC–rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes. Nat Genet 1, 137–143 (1992). https://doi.org/10.1038/ng0592-137
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0592-137
This article is cited by
-
Gene regulation in time and space during X-chromosome inactivation
Nature Reviews Molecular Cell Biology (2022)
-
Plastin 3 in health and disease: a matter of balance
Cellular and Molecular Life Sciences (2021)
-
Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome
Chromosome Research (2020)
-
Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome
Nature Communications (2018)
-
New Advances in Human X Chromosome Status from a Developmental and Stem Cell Biology
Tissue Engineering and Regenerative Medicine (2017)