Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations.

Human genetics ·Vol. 57 ·No. 4 ·1981-00-00 ·Pages 354-6

Ropers HH, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A

Abstract

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 portion of Xp.

MeSH Terms

Cells, Cultured Dosage Compensation, Genetic Female Humans Sex Chromosome Aberrations/enzymology,genetics Sex Chromosomes Skin/enzymology Steryl-Sulfatase Sulfatases/genetics,metabolism X Chromosome

Chemicals

Sulfatases Steryl-Sulfatase

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Ropers H H

Migl B

Zimmer J

Fraccaro M

Maraschio P P

Westerveld A

References (16)

16 references, click to expand

In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain.
Exp Cell Res. 1977 Feb;104(2):255-62 PMID: 65285
Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase.
Hum Genet. 1979 Jan 25;46(2):199-207 PMID: 422203
X-linked steroid sulfatase: evidence for different gene-dosage in males and females.
Hum Genet. 1980;54(2):197-9 PMID: 6930360
Abnormal X chromosomes in man: origin, behavior and effects.
Humangenetik. 1974;25(1):1-16 PMID: 4475024
Studies of the biochemical basis of steroid sulphatase deficiency: preliminary evidence suggesting a defect in membrane-enzyme structure.
J Steroid Biochem. 1980 Mar;13(3):363-73 PMID: 6930526
Non-inactivation of an x-chromosome locus in man.
Science. 1979 Jun 15;204(4398):1224-6 PMID: 156396
[The mechanism of gonadal differentiation].
Bull Schweiz Akad Med Wiss. 1978 Nov;34(4-6):357-68 PMID: 215259
X-linked ichthyosis due to steroid-sulphatase deficiency.
Lancet. 1978 Jan 14;1(8055):70-2 PMID: 74568
X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.
J Med Genet. 1978 Dec;15(6):466-74 PMID: 745219
Steroid sulfatase activity in cultured fibroblasts of XX males.
Cytogenet Cell Genet. 1981;30(3):168-73 PMID: 6945932
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223.
Hum Genet. 1980;54(2):149-54 PMID: 7390489
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
J Med Genet. 1979 Oct;16(5):389-92 PMID: 513085
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
Hum Genet. 1980;54(2):205-6 PMID: 6930361
Mechanisms and evolutionary origins of variable X-chromosome activity in mammals.
Proc R Soc Lond B Biol Sci. 1974 Nov 5;187(1088):243-68 PMID: 4154449
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3 PMID: 13764598
Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum.
J Med Genet. 1977 Jun;14(3):210-1 PMID: 881713

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00281683

Published

1981-00-00

Pages

354-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00281683 View journal details

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Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations.

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