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Steroid sulphatase in the mouse

Published online by Cambridge University Press:  14 April 2009

S. T. S. Lam ,
P. E. Polani  and
A. H. Fensom
S. T. S. Lam
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT
P. E. Polani
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT
A. H. Fensom
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, London SE1 9RT

Summary

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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.

Type
Short Paper
Information
Genetics Research , Volume 41 , Issue 3 , June 1983 , pp. 299 - 302
Copyright
Copyright © Cambridge University Press 1983

References

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