A UBIQUITIN C-TERMINAL HYDROLASE GENE ON THE PROXIMAL SHORT ARM OF THE X-CHROMOSOME - IMPLICATIONS FOR X-LINKED RETINAL DISORDERS

We report the cloning of a novel human cDNA which encodes a 690 amino acid protein with high homology to ubiquitin C-terminal hydrolases. No rthern blot analysis shows expression of a 3.3 kb transcript in all ti ssues examined, with 5- to 10-fold higher levels in retina than elsewh ere. We mapped the structural gene to Xp21.2-p11.2. This gene's relati vely high levels of retinal expression and recent work showing that pe rturbations in protein turnover and processing can lead to retinal dis ease make it an excellent candidate for several X-linked retinal disor ders mapping within this interval. Additionally, there is evidence tha t members of the ubiquitin hydrolase family may play a role in oncogen esis and a locus implicated in ovarian cancer is also located within t his region.