Summary
Steroid sulphatase (STS) activity was measured with two different steroid substrates in leucocytes from normal human males and females, from females heterozygous for STS deficiency and recessive X-linked ichthyosis, and from individuals with numerical X chromosome aberrations. The results indicate non-inactivation with a partial gene dosage compensation at the STS locus. It is estimated that STS loci on inactive X chromosomes express approximately 45% of the STS activity originating from STS loci on active X chromosomes. It is also demonstrated that 45.XO (Turner syndrome) and 47,XXY (Klinefelter syndrome) individuals have abnormal STS enzyme levels compared with normal women and men, respectively.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bradford MM (1976) A rapid and sensitive method for quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248–254
Chance PF, Gartler SM (1983) Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues. Am J Hum Genet 35:234–240
Crocker M, Craig I (1983) Variation in regulation of steroid sulphatase locus in mammals. Nature 303:721–727
Epstein EH, Jr., Leventhal ME (1981) Steroid sulfatase of human leucocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest 67:1257–1262
Goodfellow P, Banting G, Sheer D, Ropers HH, Caine A, Ferguson-Smith MA, Povey S, Voss R (1983) Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:346–349
Lykkesfeldt G, Bock JE, Lykkesfeldt AE (1981) Sex specific difference in placental steroid sulphatase activity. Lancet II:255–256
Lyon MF (1972) X-chromosome inactivation and developmental patterns in mammals. Biol Rev 47:1–35
Migeon BR, Shapiro LJ, Norum RA, Mohandas T, Axelman J, Dabora RL (1982) Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 299: 838–840
Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MS (1979) Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of the human X chromosome. Proc Natl Acad Sci USA 76:5779–5783
Müller CR, Migl B, Traupe H, Ropers HH (1980a) X-linked steroid sulfatase: Evidence for different gene-dosage in males and females. Hum Genet 54:197–199
Müller CR, Westerveld A, Migl B, Franke W, Ropers HH (1980b) Regional assignment of the gene locus for steroid sulfatase. Hum Genet 54:201–204
Polani PE (1982) Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Hum Genet 60: 207–211
Ropers HH, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A (1981) Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet 57:354–356
Schempp W, Meer B (1983) Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet 63:171–174
Shapiro LJ, Mohandas T, Weiss R, Romeo G (1979) Non-inactivation of an X-chromosome locus in man. Science 204:1224–1226
Therman E, Denniston C, Sarto GE, Ulber M (1980) X chromosome constitution and the human female phenotype. Hum Genet 54:133–143
Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp 223. Hum Genet 54:205–206
Author information
Authors and Affiliations
Additional information
Supported by the Danish Cancer Society
Rights and permissions
About this article
Cite this article
Lykkesfeldt, G., Lykkesfeldt, A.E. & Skakkebæk, N.E. Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation. Hum Genet 65, 355–357 (1984). https://doi.org/10.1007/BF00291559
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291559