Treacher Collins syndrome.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre-ribosomal processing and ribosomal biogenesis. In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death in the neuroepithelium, which results in a reduced number of neural crest cells migrating into the developing craniofacial complex. These combined advances have already impacted on clinical practice and provide invaluable resources for the continued dissection of the developmental basis of TCS.
Dixon
Jill
J
School of Dentistry, University of Manchester, Manchester, UK.
Trainor
Paul
P
Dixon
Michael J
MJ
D000818:Animals; D018389:Codon, Nonsense; D005799:Genes, Dominant; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D051379:Mice; D009432:Neural Crest / Q000002:abnormalities; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D010750:Phosphoproteins / Q000235:genetics / Q000378:metabolism; D012323:RNA Processing, Post-Transcriptional; D012335:RNA, Ribosomal / Q000378:metabolism
D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D010750:Phosphoproteins; D012335:RNA, Ribosomal; C105442:TCOF1 protein, human; C491352:Tcof1 protein, mouse