Hostname: page-component-f7d5f74f5-z2nk8 Total loading time: 0 Render date: 2023-10-02T05:58:31.045Z Has data issue: false Feature Flags: { "corePageComponentGetUserInfoFromSharedSession": true, "coreDisableEcommerce": false, "coreDisableSocialShare": false, "coreDisableEcommerceForArticlePurchase": false, "coreDisableEcommerceForBookPurchase": false, "coreDisableEcommerceForElementPurchase": false, "coreUseNewShare": true, "useRatesEcommerce": true } hasContentIssue false

Steroid sulphatase in the mouse

Published online by Cambridge University Press:  14 April 2009

S. T. S. Lam
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT
P. E. Polani
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT
A. H. Fensom
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT
Rights & Permissions [Opens in a new window]


Core share and HTML view are not possible as this article does not have html content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A form of the human skin disease, ichthyosis, results from a mutation at the steroid sulphatase locus (STS) on the X chromosome. This locus appears to escape inactivation in the XX female, resulting in the expression of two doses of the STS gene (Shapiro et al. 1978; Crawfurd, 1982). The scurfy mutation in the mouse is thought to be homologous to the human disease (McKusick, 1978), and so should also be due to a steroid sulphatase (STS) deficiency. Our findings in male and female mice suggest that, in contrast to the human, the murine ‘STS’ locus is subject to X chromosome inactivation. However, another interpretation of the results is possible, namely that STS may be coded for by an autosomal gene.

Short Paper
Copyright © Cambridge University Press 1983



Crawfurd, M. d'A. (1982). Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis. Journal of Inherited Metabolic Diseases 5, 153163.CrossRefGoogle ScholarPubMed
Fensom, A., Benson, P. F., Grant, A. R. & Jacobs, L. (1979). Fibroblast α-galactosidase A activity for identification of Fabry's Disease heterozygotes. Journal of Inherited Metabolic Diseases 2, 912.CrossRefGoogle ScholarPubMed
Iwamori, M., Moser, H. W. & Kishimoto, Y. (1976). Solubilization and partial purification of steroid sulfatase from rat liver: characterization of estrone sulfatase. Archives of Biochemistry and Biophysics 174, 199208.CrossRefGoogle ScholarPubMed
Lewis, E. B. (1950). The phenomenon of position effect. Advances in Genetics III, 73115.Google Scholar
Lusis, A. J. & West, J. D. (1976). X-linked inheritance of a structural gene for α-galactosidase in Mus musculus. Biochemical Genetics 9/10, 849855.CrossRefGoogle Scholar
McKusick, V. A. (1978). Mendelian Inheritance in Man, 5th ed., pp. 772773. Baltimore: Johns Hopkins University Press.Google Scholar
Migeon, B. R., Shapiro, L. J., Norum, R. A., Mohandas, T., Axelman, J. & Dabora, R. L. (1982). Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 299, 838840.CrossRefGoogle ScholarPubMed
Mohandas, T., Sparkes, R. S., Hellkuhl, B., Grzeschik, K. H. & Shapiro, L. J. (1980). Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the non-inactivation of the steroid sulfatase locus in man. Proceedings of the National Academy of Sciences of the United States of America 77, 67596763.CrossRefGoogle Scholar
Müller, C. R., Migl, B., Traupe, H. & Ropers, H. H. (1980). X-linked steroid sulfatase: evidence for different gene-dosage in males and females. Human Genetics 54, 197199.CrossRefGoogle ScholarPubMed
Ohno, S. (1969). Evolution of sex chromosomes in mammals. In Annual Review of Genetics 3 (ed. Roman, H. L.), pp. 495524. Palo Alto, California: Annual Reviews Inc.Google Scholar
Polani, P. E. (1982). Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Human Genetics 60, 207211.CrossRefGoogle ScholarPubMed
Roderick, T. H. & Davisson, M. T. (1982). Linkage map of the mouse. In Genetic Variants and Strains of the Laboratory Mouse (ed. Green, M. C.), pp. 279282. Stuttgart: Gustav Fischer Verlag.Google Scholar
Ropers, H. H., Migl, B., Zimmer, J., Fraccaro, M., Maraschio, P. & Westerveld, A. (1981). Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Human Genetics 57, 354356.CrossRefGoogle ScholarPubMed
Ropers, H. H. & Wiberg, U. (1982). Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming. Nature 296, 766767.CrossRefGoogle ScholarPubMed
Shapiro, L. J., Weiss, R., Webster, D. & France, J. T. (1978). X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet I, 7072.CrossRefGoogle Scholar
Solari, A. J. (1980). Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 81, 315337.CrossRefGoogle ScholarPubMed
Traupe, H. & Ropers, H. H. (1982). Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. Human Genetics 60, 206.CrossRefGoogle Scholar