Genomic Organization of the Human Heparan Sulfate-N-Deacetylase/N-Sulfotransferase Gene: Exclusion from a Causative Role in the Pathogenesis of Treacher Collins Syndrome

Heparan sulfate-N-deacetylase/N-sulfotransferase (HSST) catalyzes both theN-deacetylation and theN-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,...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 1996-03, Vol.32 (3), p.471-473
Main Authors: Gladwin, Amanda J., Dixon, Jill, Loftus, Stacie K., Wasmuth, John J., Dixon, Michael J.
Format: Article
Language:English
Subjects:
Amidohydrolases - genetics
Cloning, Molecular
Exons - genetics
Genes - genetics
Humans
Introns - genetics
Mandibulofacial Dysostosis - genetics
Mutation
Polymorphism, Single-Stranded Conformational
Restriction Mapping
Sequence Analysis, DNA
Sulfotransferases - genetics
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Summary:Heparan sulfate-N-deacetylase/N-sulfotransferase (HSST) catalyzes both theN-deacetylation and theN-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.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1996.0145