Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.

Experientia ·Vol. 32 ·No. 4 ·1976-04-15 ·Pages 459-60

Capobianchi MR, Romeo G

Abstract

Using an assay for sulfoiduronate sulfatase based on the degradation of 35S mucopolysaccharides in a cell-free system, two clonal populations have been demonstrated in fibroblasts of heterozygotes for Hunter's syndrome. The locus responsible for sulfoiduronate sulfatase deficiency in this X-linked mucopolysaccharidosis is therefore subjected to dosage compensation in females.

MeSH Terms

Clone Cells Female Fibroblasts/enzymology Humans In Vitro Techniques Male Mosaicism Mucopolysaccharidosis II/enzymology Sex

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Capobianchi M R

Romeo G

References (19)

19 references, click to expand

Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.
Am J Hum Genet. 1974 May;26(3):360-8 PMID: 4524311
Human phosphoglycerate kinase and inactivation of the X chromosome.
Science. 1972 Mar 3;175(4025):1002-3 PMID: 5009390
New method for mapping genes in human chromosomes.
Nature. 1975 Jun 26;255(5511):680-4 PMID: 1169690
Demonstration of the heterozygous state in Hunter's syndrome.
Pediatrics. 1974 Mar;53(3):396-9 PMID: 4273646
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
The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.
Proc Natl Acad Sci U S A. 1969 Sep;64(1):360-6 PMID: 4244031
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
[Ultrastructural aspects and biochemical significance of metachromatic granulations and other inclusions in cultured fibroblasts from lipidosis and mucopolysaccharidosis].
J Neurol Sci. 1973 Jun;19(2):235-53 PMID: 4351452
An assay for iduronate sulfatase (Hunter corrective factor).
Carbohydr Res. 1974 Oct;37(1):103-9 PMID: 4214613
Hurler's syndrome. A genetic study in cell culture.
J Exp Med. 1966 Jan 1;123(1):1-16 PMID: 4159251
Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.
Biochem Biophys Res Commun. 1973 Oct 1;54(3):1111-8 PMID: 4201808
Cultivated amniotic-fluid cells and fibroblasts derived from families with cystic fibrosis.
Lancet. 1969 Jul 12;2(7611):84-5 PMID: 4182766
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3 PMID: 13764598
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium.
Proc Natl Acad Sci U S A. 1972 Sep;69(9):2361-3 PMID: 4262638
Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids.
Proc Natl Acad Sci U S A. 1975 Apr;72(4):1510-4 PMID: 1055421
[Fibroblasts in culture during mucopolysaccharidoses: the effect of serum on metachromasy].
Ann Genet. 1968 Dec;11(4):265-6 PMID: 4184006
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Science. 1970 Oct 9;170(3954):180-1 PMID: 5466114
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.
Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134-8 PMID: 4269173
Limitations of metachromasia as a diagnostic aid in pediatrics.
N Engl J Med. 1969 Nov 13;281(20):1108-11 PMID: 4186417

Article Info

Journal

Experientia

Abbr.

Experientia

ISSN

0014-4754

DOI

10.1007/BF01920795

Published

1976-04-15

Pages

459-60

Language

English

Region

Switzerland

NLM ID

0376547

Subset

External Links

PubMed source DOI: 10.1007/BF01920795

Analysis Services

Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.

Contact

WeChat Official Account