CLONING OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASEGENE FROM THE TREACHER-COLLINS SYNDROME CANDIDATE REGION AT 5Q32-Q33.1

Treacher Collins syndrome is an autosomal dominant disorder of craniof acial development, the features of which include conductive hearing lo ss and cleft palate. Previous studies have shown that the Treacher Col lins syndrome locus is flanked by D5S519 and SPARC, and a yeast artifi cial 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-sulfotran sferase gene. Two different mRNA species that have identical protein c oding sequences but that differ in the size and sequence of the 3' unt ranslated regions (3' UTR) have been identified. The smaller species h as a 3' UTR of 1035 bp, whereas that of the larger is 4878 bp. (C) 199 5 Academic Press, Inc.