Article
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
Human mutation - 1 Feb 2012
Zickler Antje M, Hampp Stephanie, Messiaen Ludwine, Bengesser Kathrin, Mussotter Tanja, Roehl Angelika C, Wimmer Katharina, Mautner Victor-Felix, Kluwe Lan, Upadhyaya Meena, Pasmant Eric, Chuzhanova Nadia, Kestler Hans A, Högel Josef, Legius Eric, Claes Kathleen, Cooper David N, Kehrer-Sawatzki Hildegard
Abstract excerpt
Nonallelic homologous recombination (NAHR) is the major mechanism underlying recurrent genomic rearrangements, including the large deletions at 17q11.2 that cause neurofibromatosis type 1 (NF1). Here, we identify a novel NAHR hotspot, responsible for type-3 NF1 deletions that span 1.0 Mb. Breakpoint clustering within this 1-kb hotspot, termed PRS3, was noted in 10 of 11 known type-3 NF1 deletions. PRS3 is located...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.