关键词: 细胞质核糖体生物发生因子 1, 端粒复制, DNA 损伤应答, Treacher Collins 综合征

Abstract: Treacher Collins syndrome (TCS, OMIM number 154500) is an autosomal dominant genetic disease that results in congenital craniofacial malformation. The pathogenesis of TCS is complex. Treacle ribosome biogenesis factor 1 (TCOF1) is an original pathogenic gene of TCS. In this review, we summarized the structure and function of TCOF1 and its protein Treacle, as well as the mutations of TCOF1 in TCS. Moreover, we listed the molecular role of TCOF1 in several signal pathways which are implicated in the development of TCS. The pathways involve telomere replication, DNA damage response (DDR) and p53 pathway. Finally, the prospects of targeting TCOF1 for TCS treatment were discussed. 

Key words: treacle ribosome biogenesis factor 1, telomere replication, DNA damage response, Treacher Collins syndro