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

Journal Article · Tue Mar 05 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0145· OSTI ID:459017

Gladwin, A J; Dixon, J; Loftus, S K; Wasmuth, J J; Dixon, M J ^[1]

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1. Univ. of Manchester (United Kingdom)

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.

• OSTI ID: 459017
• Journal Information: Genomics, Vol. 32, Issue 3; Other Information: PBD: 5 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

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