Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency. Issue 9 (3rd June 2013)

• Record Type: Journal Article
• Authors: Tan, Xiaohui; Anzick, Sarah L.; Khan, Sikandar G.; Ueda, Takahiro; Stone, Gary; DiGiovanna, John J.; Tamura, Deborah; Wattendorf, Daniel; Busch, David; Brewer, Carmen C.; Zalewski, Christopher; Butman, John A.; Griffith, Andrew J.; Meltzer, Paul S.; Kraemer, Kenneth H.
• Is Part Of: Human mutation. Volume 34:Issue 9(2013:Sep.)
• Page Start: 1250
• Page End: 1259
• Publication Date: 2013-06-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22354
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22354-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We studied a patient with melanoma, DNA repair deficiency, and deafness due to malformed inner ears who had a novel balanced t(9;22) translocation. Sequencing this break region served as a "Rosetta stone" permitting identification of a new gene, <italic>FAM230A</italic>, within a gap region on chromosome 22. The chimeric <italic>p14ARF‐FAM230A</italic> gene appears to play an important dominant negative regulatory role in melanoma induction and ear development in this patient. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg372673wg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>