Microhomologies and interspersed repeat elements at genomic breakpoints in chronic myeloid leukemia

• DOI: 10.1002/gcc.20568
• Publication Date: 2008-04-08T15:46:24Z
• Authors: Elia Mattarucchi; Vittoria Guerini; Alessandro Rambaldi; Leonardo Campiotti; Achille Venco; Francesco Pasquali; Francesco Lo Curto; Giovanni Porta
• Keywords: Interspersed repeat; Breakpoint; Alu element

Reciprocal translocation t(9;22) is central to the pathogenesis of chronic myeloid leukemia. Some authors have suggested that Alu repeats facilitate this process, but supporting analyses been sparse and often anecdotal. The purpose study was analyze local structure translocations assess relevance interspersed repeat elements at breakpoints. Collected data further compared with current models DNA recombination, in particular single-strand annealing (SSA) nonhomologous end joining (NHEJ) processes. We developed a protocol for rapid characterization patient-specific genomic junctions analyzed 27 patients diagnosed Sequence analysis revealed microhomologies 21 27, while were (P < 0.05) least 16 patients. These findings are more frequent than expected give an indication main mechanisms involved SSA NHEJ pathways, both playing role. Furthermore, our report consistent facilitating ends variety other sequences pairing chromosomes during pathway.