Mutational analysis of UBR5 gene encoding an E3 ubiquitin ligase in common human cancers.

摘要

Ubiquitin protein ligase E3 component n-recognition 5 (UBR5), also known as EDD1, is a HECT-type E3 ubiquitin ligase, which plays a critical role in ubiquitin conjugation. VBR5 is a homologue of Drosophila putative tumour suppressor hyd (hyperplastic discs) where inactivating mutations cause imaginal disc overgrowth.1 UBR5 and DNA topoisomerase II-binding protein bind together, and coordinate DNA damage response. Alterations of UBR5 gene and its product have been reported in several cancers. In exon 45 of the UBR5 gene, there is a polyadenine tract (A9), and earlier studies detected frameshift mutations of the A9 in both colorectal and gastric carcinomas with microsatellite instability (MSI).