Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.
Steroid sulfatase (STS) is an X-linked enzyme whose locus escapes X inactivation in human somatic cells. STS activity was determined in human fibroblasts varying in X-chromosome number from one to four. Greater STS activity was detected in 2X cell strains when compared to 1X cell strains; however, increased STS activity was not found in 3 and 4X strains as compared with the 2X strains. Greater STS activity was also observed in female hair follicles when compared with male hair follicles. These data provide evidence of a gene dosage effect at the STS locus in human tissues.
D000483:Alleles; D000704:Analysis of Variance; D002460:Cell Line; D004303:Dosage Compensation, Genetic; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000032:analysis / Q000235:genetics; D008297:Male; D012729:Sex Chromosome Aberrations / Q000201:enzymology; D012730:Sex Chromosomes; D012867:Skin / Q000201:enzymology; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000032:analysis / Q000235:genetics*; D014960:X Chromosome
D007770:L-Lactate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D013429:Sulfatases; D043266:Steryl-Sulfatase