Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange

Man to Mouse—Lessons Learned from the Distal End of the Human X Chromosome

“…In addition, no Y homolog could be detected in either of these mouse species. The Xlinked recessive steroid sulfatase (STS) gene, which causes the development of ichthyosis, was cloned in 1987 and mapped within the X-specific part of Xp22.3 (Yen et al 1987). The murine homolog (Sts) shown previously to exhibit a segregation pattern consistent with an autosomal localization (Erikson et al 1983;Keinanen et al 1983) could in fact be localized within the pseudoautosomal region in mice (Salido et al 1996) (Fig.…”

The Biological Roles of Steroid Sulfonation

“…As a consequence, STS enzymatic activity in XX females is higher (by ≈1.6-fold) when compared to XY males. The human Y-chromosome contains an STS pseudogene that is most likely a gene duplication of STS on the X-chromosome, but it lacks the 5'-regulatory DNA sequences necessary for gene expression and hence does not express a functional STS protein [52]. STS is expressed in numerous fetal tissues, including brain, adrenal gland, small and large intestine, liver, thyroid, thymus, lung, heart and kidney [50].…”

Effects of mutations and glycosylations on STS activity: A site-directed mutagenesis study

“…The encoded protein is synthesized as a membrane-associated precursor with an apparent size of 63 kDa, upon cleavage of the signal peptide the size of STS decreases to 61 kDa (Conary et al, 1986). The STS protein contains four possible N-linked glycosylation sites (Stein et al, 1989;Yen et al, 1987). The N-glycosylation sites are indicated by the consensus sequence AsnXaa-Ser/Thr.…”

“…STS is ubiquitously expressed in mammalian tissues (Warren and French, 1965). The STS gene has been cloned, characterized (Yen et al, 1987) (GenBank accession no.…”