Literature DB >> 3391615

Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

D A Robertson1, D F Callen, E G Baker, C P Morris, J J Hopwood.   

Abstract

Glucosamine-6-sulphatase (G6S), a lysosomal enzyme found in all cells, is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of G6S results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Regional mapping by in situ hybridization of a 3H-labelled human G6S cDNA probe to human metaphase chromosomes indicated that the G6S gene is localized to chromosome 12 at q14. The localization of the G6S gene to chromosome 12 was confirmed using the G6S cDNA clone in Southern blot hybridization analysis of DNA from human x mouse hybrid cell lines.

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Year:  1988        PMID： 3391615     DOI： 10.1007/bf00280560

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridization.

Authors:  R N Simmers; I Stupans; G R Sutherland
Journal:  Cytogenet Cell Genet       Date:  1986

2.  Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12.

Authors:  K H Grzeschik; H H Kazazian
Journal:  Cytogenet Cell Genet       Date:  1985

3.  A mouse-human hybrid cell panel for mapping human chromosome 16.

Authors:  D F Callen
Journal:  Ann Genet       Date:  1986

4.  Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.

Authors:  R Gatti; C Borrone; P Durand; S De Virgilis; G Sanna; A Cao; K von Figura; H Kresse; E Paschke
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

5.  Expression of human arylsulfatase-A in man-hamster somatic cell hybrids.

Authors:  G A Bruns; B J Mintz; A C Leary; V M Regina; P S Gerald
Journal:  Cytogenet Cell Genet       Date:  1978

6.  Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

Authors:  T Mohandas; L J Shapiro; R S Sparkes; M C Sparkes
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

7.  Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization.

Authors:  C Freeman; P R Clements; J J Hopwood
Journal:  Biochem J       Date:  1987-09-01       Impact factor: 3.857

8.  Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.

Authors:  G V Coppa; P L Giorgi; L Felici; O Gabrielli; E Donti; S Bernasconi; H Kresse; E Paschke; C Mastropaolo
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183

9.  High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.

Authors:  B U Zabel; S L Naylor; A Y Sakaguchi; G I Bell; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1983-11       Impact factor: 11.205

10.  Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses.

Authors:  J J Hopwood; H Elliott
Journal:  Biochem J       Date:  1985-08-01       Impact factor: 3.857
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  13 in total

1.  [Gene expression in keratoconus. Initial results using DNA microarrays].

Authors:  A Bochert; J Berlau; D Koczan; B Seitz; H J Thiessen; R Guthoff
Journal:  Ophthalmologe       Date:  2003-06-07       Impact factor: 1.059

2.  Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.

Authors:  T Litjens; E G Baker; K R Beckmann; C P Morris; J J Hopwood; D F Callen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

3.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

4.  Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.

Authors:  T Litjens; J Bielicki; D S Anson; K Friderici; M Z Jones; J J Hopwood
Journal:  Biochem J       Date:  1997-10-01       Impact factor: 3.857

5.  Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.

Authors:  C Freeman; J J Hopwood
Journal:  Biochem J       Date:  1992-03-01       Impact factor: 3.857

6.  The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).

Authors:  J E Wraith; A Cooper; M Thornley; P J Wilson; P V Nelson; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

7.  Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Authors:  P J Wilson; G K Suthers; D F Callen; E Baker; P V Nelson; A Cooper; J E Wraith; G R Sutherland; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

8.  The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

Authors:  E Baker; X H Guo; A M Orsborn; G R Sutherland; D F Callen; J J Hopwood; C P Morris
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

9.  A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases.

Authors:  D A Robertson; C Freeman; C P Morris; J J Hopwood
Journal:  Biochem J       Date:  1992-12-01       Impact factor: 3.857

Review 10.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982
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