Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation

Lykkesfeldt, G; Lykkesfeldt, Annè E.; Skakkebæk, Niels E.

doi:10.1007/bf00291559

Cited by 33 publications

(17 citation statements)

References 17 publications

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“…The characterization of the enzyme showed the same pattern as that reported for human chorion and decidual tissue [11]. The difference between males and females in steroid sulfatase enzyme activities has been demonstrated in various human tissues such as the placenta [12], lymphocytes [3, [12][13][14][15] 13,15] indicating that the measurement of leukocyte steroid sulfatase makes possible rapid differentiation of patients with RXLI from those with other types of ichthyosis. They also suggested that this method makes possible the identification of RXLI carriers diagnosed from the clinical appearance and pedigree analysis.…”

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confidence: 58%

Steroid Sulfatase Activities in Human Leukocytes: Biochemical and Clinical Aspects.

et al. 1991

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Abstract. Steroid sulfatase is a membrane-bound microsomal enzyme, present in various tissues. In this report, data on sulfatase activity in peripheral blood leukocytes isolated from normal women and the characterization of its enzyme are studied. In addition, sulfatase activities in placental sulfatase deficiency (PSD) and ichthyosis patients including ichthyosis vulgaris (IV) and recessive X-linked ichthyosis (RXLI) were analysed and were compared with normal subjects. Steroid sulfatase activity was measured by using tritium labeled steroid sulfate as the reaction substrate. It is demonstrated that human leukocytes contain a sulfatase activity for pregnenolone sulfate (P5-S), dehydroepiandrosterone sulfate (DHA-S) and estrone sulfate (E 1-S) respectively. This enzyme has a greatest affinity for P5-S, but the activity for E l -S was the highest among the three substrates. The steroid sulfatase activity in female leukocytes is significantly stronger than that in normal males (p<0.001) as determined by the cleavage of DHA-S. Sulfatase in leukocytes obtained from the PSD babies and RXLI patients had lower sensitivity. In the case of the mother affected with PSD, the activity was less than half of that in normal men (p<0.001) and the levels did not overlap with that in normal women. In patients with IV, the activities were in the normal ranges for both males and females. The measurement of leukocyte sulfatase activity would be a clinically useful tool for the diagnosis of PSD carriers and pedigree analysis.

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supporting

confidence: 58%

Steroid Sulfatase Activities in Human Leukocytes: Biochemical and Clinical Aspects.

et al. 1991

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“…1979). However, the reported dosage effects have been less than 2 to 1 (Ropers et al, 1981: Lykkesfeldt et al, 1984. These results suggest that partial dosage compensa tion may occur for the human STS gene on the inactive X (Lyk kesfeldt et al, 1984).…”

Section: Resultsmentioning

confidence: 91%

Expression level of <i>Rps4 </i>mRNA in 39, X mice and 40, XX mice

Omoe

Endo

1994

Cytogenet Genome Res

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Contrary to the effects of X-chromosome monosomy in humans (Turner syndrome), XO mice are fertile and anatomically normal. The human RPS4X gene encodes ribosomal protein S4 and escapes X-chromosome inactivation, and its haploinsufficiency has been suspected to contribute to Turner syndrome. Therefore, we compared the expression level of mRNA of Rps4 (the mouse homolog of RPS4X) between XX and XO mice using Northern blot analysis. The XO/XX ratio of Rps4 mRNA obtained from Northern blot analysis was 0.9. There was no difference in the expression level of Rps4 mRNA between XX and XO mice. The difference in the KPS4/Rps4 transcription pattern between humans and mice may contribute, at least in part, to the phenotypic difference in monosomy X between humans and mice.

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“…Although the segments Xq22, 24, 26, 28 are not involved in these early replicators, some summation effect in multiple X individuals may be possible. On the other hand, according to Lykkesfeldt et al (1984) even in the case of steroid sulfatase (STS) loci on inactive X chromosome (assigned to Xp22), it is estimated that it expresses only 45~ of the active X chromosome. They indicated that the STS activities in a 47,XXX individual and in a 49,XXXXY individual were in the female range, which also supports the conclusion of a reduced expression of STS loci in heterocyclic inactive X chromosomes.…”

Section: Discussionmentioning

confidence: 99%

DNA replication study in a female infant with a karyotype of 45,X/46,X, psu dic(X) (p22::p22) and review of the literature

et al. 1987

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SummaryA newborn female with anal atresia, duodenal perforation and mild Turner's stigmata was found to have a karyotype of 45,X/46,X, psu dic(X)(qter ~ p22::p22 ~ qter) in her lymphocytes. The rearranged chromosome had only one primary constriction and always demonstrated late replication. The constitutive heterochromatin at the pseudocentromeric region was C-band positive but Cd-band negative. Analysis of the DNA replication sequence in initiation by B-pulse methods in lymphocytes revealed a frequent asymmetric pattern and more than two types of sequence at both long arms of psu dic(X). The pattern of DNA replication did not relate to the position of the active centromere. The existence of replication variants by B-pulse method may merely indicates the occasional asynchronous start of segments in the distal long arm of X chromosome.

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Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation

Cited by 33 publications

References 17 publications

Steroid Sulfatase Activities in Human Leukocytes: Biochemical and Clinical Aspects.

Steroid Sulfatase Activities in Human Leukocytes: Biochemical and Clinical Aspects.

Expression level of <i>Rps4 </i>mRNA in 39, X mice and 40, XX mice

DNA replication study in a female infant with a karyotype of 45,X/46,X, psu dic(X) (p22::p22) and review of the literature

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