Literature DB >> 118467

Genetic complementation studies of multiple sulfatase deficiency.

A L Horwitz.   

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.

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Year:  1979        PMID： 118467      PMCID： PMC411892          DOI： 10.1073/pnas.76.12.6496

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  15 in total

1.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

2.  Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.

Authors:  A L Fluharty; R L Stevens; L L Davis; L J Shapiro; H Kihara
Journal:  Am J Hum Genet       Date:  1978-05       Impact factor: 11.025

3.  Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Science       Date:  1968-11-01       Impact factor: 47.728

4.  The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases.

Authors:  A L Horwitz; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1978-02-28       Impact factor: 3.575

5.  Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.

Authors:  J H Austin
Journal:  Arch Neurol       Date:  1973-04

6.  Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids.

Authors:  M J Champion; T B Shows
Journal:  Nature       Date:  1977-11-03       Impact factor: 49.962

7.  Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.

Authors:  C DeLuca; J A Brown; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1979-04       Impact factor: 11.205

8.  The biosynthesis of chondroitin sulfate.

Authors:  A Telser; H C Robinson; A Dorfman
Journal:  Arch Biochem Biophys       Date:  1966-09-26       Impact factor: 4.013

9.  Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol.

Authors:  R L Davidson; P S Gerald
Journal:  Somatic Cell Genet       Date:  1976-03

10.  Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025
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  11 in total

Review 1.  Genetic heterogeneity in metachromatic leukodystrophy.

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Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

2.  Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts.

Authors:  M C Yoshida
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  Biochemical variability of arylsulphatases -A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency.

Authors:  P L Chang; N E Rosa; S R Ballantyne; R G Davidson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

4.  Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

Authors:  A Ballabio; G Parenti; E Napolitano; P Di Natale; G Andria
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Complementation of multiple sulfatase deficiency in somatic cell hybrids.

Authors:  K Fedde; A L Horwitz
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.

Authors:  W Rommerskirch; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1992-04-01       Impact factor: 11.205

7.  Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.

Authors:  A Tanaka; S Higami; G Isshiki; T Matsumoto; M Furusawa
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

8.  Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.

Authors:  S Zakrzewski; K Sperling
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.

Authors:  P L Chang; R G Davidson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-10       Impact factor: 11.205

Review 10.  Formylglycine, a post-translationally generated residue with unique catalytic capabilities and biotechnology applications.

Authors:  Mason J Appel; Carolyn R Bertozzi
Journal:  ACS Chem Biol       Date:  2015-01-16       Impact factor: 5.100
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