Transcriptional map of the Treacher Collins candidate gene region.
Open Access
- 1 January 1996
- journal article
- Published by Cold Spring Harbor Laboratory in Genome Research
- Vol. 6 (1) , 26-34
- https://doi.org/10.1101/gr.6.1.26
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.Keywords
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