Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.

Abstract:

:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific gridded cosmid library containing the entire GALNS gene were isolated. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The GALNS gene is split into 14 exons spanning approximately 40 kb. The potential promoter for GALNS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. The GALNS gene contains an Alu repeat in intron 5 and a VNTR-like sequence in intron 6.

journal_name

Genomics

journal_title

Genomics

authors

Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS

doi

10.1006/geno.1994.1443

subject

Has Abstract

pub_date

1994-08-01 00:00:00

pages

652-4

issue

3

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(84)71443-1

journal_volume

22

pub_type

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