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

Daniel A. Robertson; David F. Callen; Elizabeth G. Baker; C. Phillip Morris; John J. Hopwood

doi:10.1007/BF00280560

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

Daniel A. Robertson, David F. Callen, Elizabeth G. Baker, C. Phillip Morris, John J. Hopwood

Research output: Contribution to journal › Article › peer-review

31 Citations (Scopus)

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.

Original language	English
Pages (from-to)	175-178
Number of pages	4
Journal	Human Genetics
Volume	79
Issue number	2
DOIs	https://doi.org/10.1007/BF00280560
Publication status	Published or Issued - 1 Jun 1988
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14",

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.",

author = "Robertson, {Daniel A.} and Callen, {David F.} and Baker, {Elizabeth G.} and Morris, {C. Phillip} and Hopwood, {John J.}",

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T1 - Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14

AU - Robertson, Daniel A.

AU - Callen, David F.

AU - Baker, Elizabeth G.

AU - Morris, C. Phillip

AU - Hopwood, John J.

PY - 1988/6/1

Y1 - 1988/6/1

N2 - 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.

AB - 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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JO - Human Genetics

JF - Human Genetics

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ER -

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

Abstract

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