Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1

Genomics. 1995 Mar 20;26(2):239-44. doi: 10.1016/0888-7543(95)80206-2.


Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. Previous studies have shown that the Treacher Collins syndrome locus is flanked by D5S519 and SPARC, and a yeast artificial chromosome contig encompassing this "critical region" has been completed. In the current investigation a cosmid containing D5S519 has been used to screen a human placental cDNA library. This has resulted in the cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene. Two different mRNA species that have identical protein coding sequences but that differ in the size and sequence of the 3' untranslated regions (3' UTR) have been identified. The smaller species has a 3' UTR of 1035 bp, whereas that of the larger is 4878 bp.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amidohydrolases / deficiency
  • Amidohydrolases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chickens / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • Cloning, Molecular
  • Cosmids
  • Genes*
  • Humans
  • Mammals / genetics
  • Mandibulofacial Dysostosis / enzymology
  • Mandibulofacial Dysostosis / genetics*
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • Sequence Alignment
  • Sequence Homology, Nucleic Acid
  • Sulfotransferases / deficiency
  • Sulfotransferases / genetics*


  • RNA, Messenger
  • Sulfotransferases
  • heparitin sulfotransferase
  • Amidohydrolases

Associated data

  • GENBANK/U18918
  • GENBANK/U18932