In cultured fibroblasts of patients with numerical and structural X chromosome aberrations the activity of steroid sulfatase (STS) is correlated with the number of functional STS gene copies. While normally, this X-linked gene is not inactivated, our data suggest that it may be subject to inactivation when carried on a structurally altered X-chromosome. Similar inactivation patterns have been reported earlier for the Xg locus which, like STS, is located on the distal protion of Xp.
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Ropers, H.H., Migl, B., Zimmer, J. et al. Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet 57, 354–356 (1981). https://doi.org/10.1007/BF00281683
- Internal Medicine
- Metabolic Disease
- Gene Copy
- Chromosome Aberration