UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene. Issue 12 (7th October 2013)

• Record Type: Journal Article
• Authors: Wake, Naomi C.; Ricketts, Christopher J.; Morris, Mark R.; Prigmore, Elena; Gribble, Susan M.; Skytte, Anne‐Bine; Brown, Michael; Clarke, Noel; Banks, Rosamonde E.; Hodgson, Shirley; Turnell, Andrew S.; Maher, Eamonn R.; Woodward, Emma R.
• Is Part Of: Human mutation. Volume 34:Issue 12(2013:Dec.)
• Page Start: 1650
• Page End: 1661
• Publication Date: 2013-10-07
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22433
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22433-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>(A) Sanger sequencing of der(5) and der(19) breakpoints of a renal tumour associated constitutional translocation shows the chromosome 5 breakpoint to disrupt a previously uncharacterised gene, UBE2QL1. (B) UBE2QL1 shows homology to the ubiquitin conjugating enzyme family and an in silico search revealed a possible FBXW7 binding domain. We show that UBE2QL1 does bind both ubiquitin and FBXW7. (C) UBE2QL1 shows growth suppression (left) and inhibition of anchorage independent growth (middle), which is dependent upon the active‐site cysteine residue (right). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3wjb501z" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>