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Science 15 June 1979:
Vol. 204. no. 4398, pp. 1224 - 1226
DOI: 10.1126/science.156396
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Articles

Science, Vol 204, Issue 4398, 1224-1226
Copyright © 1979 by American Association for the Advancement of Science

articles

Non-inactivation of an x-chromosome locus in man

LJ Shapiro, T Mohandas, R Weiss, and G Romeo

Cloned fibroblasts from women heterozygous for X-linked ichthyosis (steroid sulfatase deficiency) were examined to see whether or not this locus is subject to X-inactivation. Of 103 clones examined, all had normal levels of steroid sulfatase activity. Two of the women studied were also heterozygous for glucose-6-phosphate dehydrogenase deficiency. This allowed the demonstration that both X chromosomes were represented as the active X in various clones and that selection did not account for these findings. Thus, the steroid sulfatase locus, like the Xga locus to which it is linked, appears to escape X-inactivation in man.


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Heterogeneous gene expression from the inactive X chromosome: An X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.
L. Carrel and H. F. Willard (1999)
PNAS 96, 7364-7369
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Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.
A. P. Miller and H. F. Willard (1998)
PNAS 95, 8709-8714
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Epigenetic and Chromosomal Control of Gene Expression: Molecular and Genetic Analysis of X Chromosome Inactivation.
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An X-linked human collagen transgene escapes X inactivation in a subset of cells.
H Wu, R Fassler, A Schnieke, D Barker, K. Lee, V Chapman, U Francke, and R Jaenisch (1992)
Development 116, 687-695
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Variable Expression in Focal Dermal Hypoplasia: An Example of Differential X-Chromosome Inactivation.
M. A. Wechsler, C. M. Papa, F. Haberman, and R. W. Marion (1988)
Arch Pediatr Adolesc Med 142, 297-300
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Familial X-linked Ichthyosis, Steroid Sulfatase Deficiency, Mental Retardation, and Nullisomy for Xp223-pter.
J. B. Ross, P. W. Allderdice, L. J. Shapiro, J. Aveling, B. A. Eales, and D. Simms Jr (1985)
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Implications for X-Chromosome Regulation from Studies of Human X-Chromosome DNA.
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DNA Methylation and the Control of Gene Expression on the Human X Chromosome.
L.J. Shapiro and T. Mohandas (1983)
Cold Spring Harb Symp Quant Biol 47, 631-637
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Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation.
T Mohandas, R. Sparkes, and L. Shapiro (1981)
Science 211, 393-396
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Human Gene Mapping, Genetic Linkage, and Clinical Applications.
R. S. SPARKES, M. A. SPENCE, T. MOHANDAS, L. J. SHAPIRO, and S. J. FUNDERBURK (1980)
Ann Intern Med 93, 469-479
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