Proc Natl Acad Sci U S A. 1979 Dec;76(12):6496-9.

Genetic complementation studies of multiple sulfatase deficiency.

Abstract

Cultured fibroblasts from two individuals with multiple sulfatase deficiency (MSD) were found to have decreased activities of arylsulfatases (aryl-sulfate sulfohydrolase, EC 3.1.6.1) A, B, and C as well as iduronate-sulfate sulfatase, sulfamidase, and N-acetylglucosamine-6-sulfate sulfatase. The activity of N-acetylgalactosamine-6-sulfate sulfatase was decreased in one line but not in the other. Mixtures of MSD cell extracts with extracts from normal cells did not result in inhibition of normal sulfatase activities. Mixtures of MSD cell extracts with extracts of fibroblasts from patients with Hunter or Sanfilippo A syndrome did not activate iduronate-sulfate sulfatase or sulfamidase activity. Heterokaryons formed by fusion of MSD cells with Sanfilippo A fibroblasts demonstrated a partial correction of the enzyme deficiency. In similar manner, MSD-Hunter heterokaryons showed a significant increase in iduronate-sulfate-sulfatase activity. Genetic complementation in heterokaryons of MSD fibroblasts and cells of either Sanfilippo A or Hunter syndrome implies a genetic defect in MSD different from that causing specific sulfatase deficiencies.

PMID:: 118467; [PubMed - indexed for MEDLINE]
PMCID:: PMC411892

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, U.S. Gov't, P.H.S.

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Research Materials

Coriell Cell Repositories

Supplemental Content

Save items

Related citations in PubMed

Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. [Pediatr Res. 1979]
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
Basner R, von Figura K, Glössl J, Klein U, Kresse H, Mlekusch W. Pediatr Res. 1979 Dec; 13(12):1316-8.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. [Proc Natl Acad Sci U S A. 1980]
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Chang PL, Davidson RG. Proc Natl Acad Sci U S A. 1980 Oct; 77(10):6166-70.
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients. [Clin Genet. 1981]
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
Yutaka T, Okada S, Kato T, Inui K, Yabuuchi H. Clin Genet. 1981 Oct; 20(4):296-303.
Review Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. [Enzyme. 1987]
Review Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency.
Eto Y, Gomibuchi I, Umezawa F, Tsuda T. Enzyme. 1987; 38(1-4):273-9.
Review [Arylsulfatase deficiency and various metabolic diseases]. [Pediatr Pol. 1978]
Review [Arylsulfatase deficiency and various metabolic diseases].
Czyzewska K, Działoszyński L. Pediatr Pol. 1978 Sep; 53(9):1129-35.

See reviews... See all...

Cited by 4 PubMed Central articles

Complementation of multiple sulfatase deficiency in somatic cell hybrids. [Am J Hum Genet. 1984]
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Fedde K, Horwitz AL. Am J Hum Genet. 1984 May; 36(3):623-33.
Review Genetic heterogeneity in metachromatic leukodystrophy. [Am J Hum Genet. 1982]
Review Genetic heterogeneity in metachromatic leukodystrophy.
Kihara H. Am J Hum Genet. 1982 Mar; 34(2):171-81.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. [Proc Natl Acad Sci U S A. 1980]
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Chang PL, Davidson RG. Proc Natl Acad Sci U S A. 1980 Oct; 77(10):6166-70.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Genetic complementation studies of multiple sulfatase deficiency.
Genetic complementation studies of multiple sulfatase deficiency.
Proc Natl Acad Sci U S A. 1979 Dec ;76(12):6496-9.

PubMed
Risk analysis for mortality from respiratory tumors in a cohort of refractory ce...
Risk analysis for mortality from respiratory tumors in a cohort of refractory ceramic fiber workers.
Regul Toxicol Pharmacol. 2002 Feb ;35(1):95-104.

PubMed
Analysis of relative gene expression data using real-time quantitative PCR and t...
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.
Methods. 2001 Dec ;25(4):402-8.

PubMed
Solution structure and backbone dynamics of an engineered arginine-rich subdomai...
Solution structure and backbone dynamics of an engineered arginine-rich subdomain 2 of the hepatitis C virus NS3 RNA helicase.
J Mol Biol. 2001 Nov 30 ;314(3):543-61.

PubMed
Entamoeba histolytica: transferrin binding proteins.
Entamoeba histolytica: transferrin binding proteins.
Exp Parasitol. 2001 Nov ;99(3):132-40.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: