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PMID: 6573129 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 35 ·No. 2 ·1983-03-00 ·Pages 234-40

Chance PF, Gartler SM

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.

MeSH Terms

Alleles Analysis of Variance Cell Line Dosage Compensation, Genetic Female Glucosephosphate Dehydrogenase/analysis,genetics Humans Karyotyping L-Lactate Dehydrogenase/analysis,genetics Male Sex Chromosome Aberrations/enzymology Sex Chromosomes Skin/enzymology Steryl-Sulfatase Sulfatases/analysis,genetics X Chromosome

Chemicals

L-Lactate Dehydrogenase Glucosephosphate Dehydrogenase Sulfatases Steryl-Sulfatase

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Chance P F

Gartler S M

References (13)

13 references, click to expand

Steroid sulfatase deficiency.
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X-linked ichthyosis due to steroid-sulphatase deficiency.
Lancet. 1978 Jan 14;1(8055):70-2 PMID: 74568
HGPRT activity changes in preimplantation mouse embryos.
Nature. 1978 Aug 3;274(5670):503-4 PMID: 580953
Enzymatic basis of typical X-linked icthyosis.
Lancet. 1978 Oct 7;2(8093):756-7 PMID: 80684
Non-inactivation of an x-chromosome locus in man.
Science. 1979 Jun 15;204(4398):1224-6 PMID: 156396
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.
Proc Natl Acad Sci U S A. 1979 Nov;76(11):5779-83 PMID: 293682
DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.
Proc Natl Acad Sci U S A. 1963 Sep;50:481-5 PMID: 14067093
Regional assignment of the gene locus for steroid sulfatase.
Hum Genet. 1980;54(2):201-4 PMID: 6985463
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
Hum Genet. 1980;54(2):205-6 PMID: 6930361
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.
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6759-63 PMID: 6935682
Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.
J Clin Invest. 1981 May;67(5):1257-62 PMID: 6939689
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations.
Hum Genet. 1981;57(4):354-6 PMID: 6945285
X-linked steroid sulfatase: evidence for different gene-dosage in males and females.
Hum Genet. 1980;54(2):197-9 PMID: 6930360

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1983-03-00

Pages

234-40

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1685532

Subset

Grants

NIGMS NIH HHS · GM-15253 · United States

External Links

PubMed source PMC Full Text View journal details

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

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