caa a22 4500 397573669 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.533 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.533 A Ubiquitin C-Terminal Hydrolase Gene on the Proximal Short Arm of the X Chromosome: Implications for X-Linked Retinal Disorders [Elektronische Daten] [Deborah A. Swanson, Carol L. Freund, Lynda Ploder, Roderick R. McInnes, David Valle] We report the cloning of a novel human cDNA which encodes a 690 amino acid protein with high homology to ubiquitin C-terminal hydrolases. Northern blot analysis shows expression of a 3.3 kb transcript in all tissues examined, with 5-to 10-fold higher levels in retina than elsewhere. We mapped the structural gene to Xp21.2-p11.2. This gene's relatively high levels of retinal expression and recent work showing that perturbations in protein turnover and processing can lead to retinal disease make it an excellent candidate for several X-linked retinal disorders mapping within this interval. Additionally, there is evidence that members of the ubiquitin hydrolase family may play a role in oncogenesis and a locus implicated in ovarian cancer is also located within this region. © 1996 Oxford University Press Swanson Deborah A. Predoctoral Training Program in Human Genetics, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut Freund Carol L. Predoctoral Training Program in Human Genetics, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut Ploder Lynda Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada aut McInnes Roderick R. Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada aut Valle David Howard Hughes Medical Institute, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 533-538 0964-6906 5:4<533 1996 5 hmg https://doi.org/10.1093/hmg/5.4.533 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.533 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Swanson Deborah A. Predoctoral Training Program in Human Genetics, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut NATIONALLICENCE 700 1- Freund Carol L. Predoctoral Training Program in Human Genetics, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut NATIONALLICENCE 700 1- Ploder Lynda Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- McInnes Roderick R. Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Valle David Howard Hughes Medical Institute, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 533-538 0964-6906 5:4<533 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford