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Literature DB >> 6573129

Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.

Abstract

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.

Entities: Gene Species

Mesh：

Substances：

Year: 1983 PMID： 6573129 PMCID： PMC1685532

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

13 in total

1. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors: R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal: Proc Natl Acad Sci U S A Date: 1963-09 Impact factor: 11.205

2. Steroid sulfatase deficiency.

Authors: L J Shapiro; L Cousins; A L Fluharty; R L Stevens; H Kihara
Journal: Pediatr Res Date: 1977-08 Impact factor: 3.756

3. HGPRT activity changes in preimplantation mouse embryos.

Authors: P G Kratzer; S M Gartler
Journal: Nature Date: 1978-08-03 Impact factor: 49.962

4. Enzymatic basis of typical X-linked icthyosis.

Authors: L J Shapiro; R Weiss; M M Buxman; J Vidgoff; R L Dimond; J A Roller; R S Wells
Journal: Lancet Date: 1978-10-07 Impact factor: 79.321

5. X-linked ichthyosis due to steroid-sulphatase deficiency.

Authors: D Webster; J T France; L J Shapiro; R Weiss
Journal: Lancet Date: 1978-01-14 Impact factor: 79.321

6. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

Authors: T Mohandas; L J Shapiro; R S Sparkes; M C Sparkes
Journal: Proc Natl Acad Sci U S A Date: 1979-11 Impact factor: 11.205

7. Regional assignment of the gene locus for steroid sulfatase.

Authors: C R Müller; A Westerveld; B Migl; W Franke; H H Ropers
Journal: Hum Genet Date: 1980 Impact factor: 4.132

8. Non-inactivation of an x-chromosome locus in man.

Authors: L J Shapiro; T Mohandas; R Weiss; G Romeo
Journal: Science Date: 1979-06-15 Impact factor: 47.728

9. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

Authors: L Tiepolo; O Zuffardi; M Fraccaro; D di Natale; L Gargantini; C R Müller; H H Ropers
Journal: Hum Genet Date: 1980 Impact factor: 4.132

10. Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man.

Authors: T Mohandas; R S Sparkes; B Hellkuhl; K H Grzeschik; L J Shapiro
Journal: Proc Natl Acad Sci U S A Date: 1980-11 Impact factor: 11.205

11 in total

1. Partial lyonisation of steroid sulphatase gene in single hair roots.

Authors: P J Willems; H W de Bruijn; A Groenhuis; B R Mooyaart; R Berger
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

2. Linkage of the steroid sulfatase gene to the sex-reversed mutation in the mouse.

Authors: E A Keitges; D F Schorderet; S M Gartler
Journal: Genetics Date: 1987-07 Impact factor: 4.562

3. Identification of an autosomal locus affecting steroid sulfatase activity among inbred strains of mice.

Authors: R P Erickson; K Harper; J M Kramer
Journal: Genetics Date: 1983-09 Impact factor: 4.562

4. Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase.

Authors: D G Munroe; P L Chang
Journal: Am J Hum Genet Date: 1987-02 Impact factor: 11.025

5. Steroid sulphatase levels are higher in males than in females of the root vole (Microtus oeconomus). Yet another rodent with an active Y-linked allele?

Authors: U H Wiberg; K Fredga
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132