Steroid sulphatase in the mouse
- 1 February 1983
- journal article
- research article
- Published by Hindawi Limited in Genetics Research
- Vol. 41 (3) , 299-302
- https://doi.org/10.1017/s0016672300021352
Abstract
SUMMARY: 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.Keywords
This publication has 14 references indexed in Scilit:
- Review: Genetics of steroid sulphatase deficiency and X‐linked ichthyosisJournal of Inherited Metabolic Disease, 1982
- Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factorHuman Genetics, 1982
- Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemmingNature, 1982
- Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgarisHuman Genetics, 1982
- Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrationsHuman Genetics, 1981
- Synaptonemal complexes and associated structures in microspread human spermatocytesChromosoma, 1980
- Fibroblast α-galactosidase a activity for identification of Fabry's disease heterozygotesJournal of Inherited Metabolic Disease, 1979
- X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCYThe Lancet, 1978
- X-linked inheritance of a structural gene for ?-galactosidease in Mus musculusBiochemical Genetics, 1976
- The Phenomenon of Position EffectPublished by Elsevier ,1950