skip to main content
OSTI.GOV title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome

Abstract

Heparan sulfate-N-deacetylase/N-sulfotransferase (HSST) catalyzes both the N-deacetylation and the N-sulfation of heparan sulfate. Previous studies have resulted in the isolation of the human HSST gene from within the Treacher Collins syndrome locus (TCOF1) critical region on 5q. In the present study, the genomic organization of the HSST gene has been elucidated, and the 14 exons identified have been tested for TCOF1-specific mutations. As a result of these studies, mutations within the coding sequence and adjacent splice junctions of HSST can be excluded from a causative role in the pathogenesis of Treacher Collins syndrome. 13 refs., 1 fig., 2 tabs.

Authors:
; ; ; ;  [1]
  1. Univ. of Manchester (United Kingdom)
Publication Date:
OSTI Identifier:
459017
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 32; Journal Issue: 3; Other Information: PBD: 5 Mar 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HEREDITARY DISEASES; GENETICS; PATHOGENESIS; GENES; STRUCTURE-ACTIVITY RELATIONSHIPS; DNA SEQUENCING; GENE MUTATIONS; GENETIC MAPPING; SPLICING; TRANSCRIPTION; HUMAN CHROMOSOME 5; EXONS; POLYMERASE CHAIN REACTION; COSMIDS; ENZYMES

Citation Formats

Gladwin, A J, Dixon, J, Loftus, S K, Wasmuth, J J, Dixon, M J, and Univ. of California, Irvine, CA. Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0145.
Gladwin, A J, Dixon, J, Loftus, S K, Wasmuth, J J, Dixon, M J, & Univ. of California, Irvine, CA. Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. United States. https://doi.org/10.1006/geno.1996.0145
Gladwin, A J, Dixon, J, Loftus, S K, Wasmuth, J J, Dixon, M J, and Univ. of California, Irvine, CA. 1996. "Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome". United States. https://doi.org/10.1006/geno.1996.0145.
@article{osti_459017,
title = {Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome},
author = {Gladwin, A J and Dixon, J and Loftus, S K and Wasmuth, J J and Dixon, M J and Univ. of California, Irvine, CA},
abstractNote = {Heparan sulfate-N-deacetylase/N-sulfotransferase (HSST) catalyzes both the N-deacetylation and the N-sulfation of heparan sulfate. Previous studies have resulted in the isolation of the human HSST gene from within the Treacher Collins syndrome locus (TCOF1) critical region on 5q. In the present study, the genomic organization of the HSST gene has been elucidated, and the 14 exons identified have been tested for TCOF1-specific mutations. As a result of these studies, mutations within the coding sequence and adjacent splice junctions of HSST can be excluded from a causative role in the pathogenesis of Treacher Collins syndrome. 13 refs., 1 fig., 2 tabs.},
doi = {10.1006/geno.1996.0145},
url = {https://www.osti.gov/biblio/459017}, journal = {Genomics},
number = 3,
volume = 32,
place = {United States},
year = {Tue Mar 05 00:00:00 EST 1996},
month = {Tue Mar 05 00:00:00 EST 1996}
}