Transcriptional map of the Treacher Collins candidate gene region

Stacie K. Loftus, Jill Dixon, Kathryn Koprivnikar, Michael J. Dixon, John J. Wasmuth

    Research output: Contribution to journalArticlepeer-review


    Treacher Collins syndrome (TCOF1) is a dominant disorder of craniofacial development that has been linked previously 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.
    Original languageEnglish
    Pages (from-to)26-34
    Number of pages8
    JournalGenome research
    Issue number1
    Publication statusPublished - 1996


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