Palindrome‐Mediated and Replication‐Dependent Pathogenic Structural Rearrangements within the NF1 Gene. Issue 7 (21st May 2014)

• Record Type: Journal Article
• Authors: Hsiao, Meng‐Chang; Piotrowski, Arkadiusz; Alexander, John; Callens, Tom; Fu, Chuanhua; Mikhail, Fady M.; Claes, Kathleen B.M.; Messiaen, Ludwine
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 891
• Page End: 898
• Publication Date: 2014-05-21
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22569
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22569-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, we have identified five deletions and one chromosomal translocation t(14;17)(q32;q11.2) mediated by a 197‐bp long palindromic AT‐rich repeat (PATRR17) within the NF1 gene. Although several previous studies indicated a purely replication‐independent mechanism for PATRR‐mediated translocations, the PATRR17‐mediated intragenic deletions as well as the translocation are likely the result of a replication‐dependent mechanism. Furthermore, we identified the PATRR17, especially the loop of PATRR17, as a significant intragenic rearrangement hotspot within the <italic>NF1</italic> gene. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4tvk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>