Morquio a syndrome: Cloning, sequence, and structure of the human n- acetylgalactosamine 6-sulfatase (galns) gene

C. P. Morris, X. H. Guo, S. Apostolou, J. J. Hopwood, H. S. Scott

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)652-654
Number of pages3
JournalGenomics
Volume22
Issue number3
DOIs
Publication statusPublished or Issued - 1 Jan 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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