title: Transcriptional map of the Treacher Collins candidate gene region.
abstract: Treacher Collins syndrome (TCOF1) is a dominant disorder of craniofacial development that has been linked previosuly to a region of chromosome 5q31.3-32. Identification of recombination events in affected individuals has reduced the candidate gene region to a 0.5-Mb area between the loci RPS14 (proximal) and ANX6 [distal]. A transcriptional map of this candidate gene region, generated by analysis of exon amplification clones, has identified the genomic location of four genes, heparan sulfate-N-sulfotransferase-N-deacetylase, glutathione peroxidase, as well as two novel, previously uncharacterized genes. Each of these genes, based on their location, must be considered candidates for TCOF1 locus.
authors.affiliation: Department of Biological Chemistry, College of Medicine, University of California, Irvine, USA.
authors.forename: S K
authors.initials: SK
authors.lastname: Loftus
authors.forename: J
authors.initials: J
authors.lastname: Dixon
authors.forename: K
authors.initials: K
authors.lastname: Koprivnikar
authors.forename: M J
authors.initials: MJ
authors.lastname: Dixon
authors.forename: J J
authors.initials: JJ
authors.lastname: Wasmuth
mesh_terms: D000581:Amidohydrolases / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA; D005091:Exons; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger; D015238:Sulfotransferases / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger; D004247:DNA; D015238:Sulfotransferases; C021350:heparitin sulfotransferase; D000581:Amidohydrolases