Copy number variation at the breakpoint region of isochromosome 17q.

Genome Research
Claudia M B Carvalho, James R Lupski

Abstract

Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2. The breakpoint cluster region is characterized by a complex architecture with large ( approximately 38-49 kb), inverted and directly oriented, low-copy repeats (LCRs), known as REPA and REPB that apparently lead to genomic instability and facilitate somatic genetic rearrangements. Through the analysis of bacterial artificial chromosome (BAC) clones, pulsed-field gel electrophoresis (PFGE), and public array comparative genomic hybridization (array CGH) data, we show that the REPA/B structure is also susceptible to frequent meiotic rearrangements. It is a highly dynamic genomic region undergoing deletions, inversions, and duplications likely produced by non-allelic homologous recombination (NAHR) mediated by the highly identical SNORD3@, also known as U3, gene cluster present therein. We detected at least seven different REPA/B structures in samples from 29 individuals of which six represented potentially novel structures. Two polymorphic copy-number variation (CNV) variants, d...Continue Reading

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Citations

Oct 1, 2010·Acta Neuropathologica·Stefan M PfisterMichael D Taylor
Dec 23, 2009·Human Molecular Genetics·Seon-Hee YimYeun-Jun Chung
Sep 1, 2009·Annual Review of Genomics and Human Genetics·Feng ZhangJames R Lupski
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Nov 19, 2008·PathoGenetics·Wenli GuJames R Lupski
May 15, 2009·Genome Medicine·James R Lupski
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Claudia M B CarvalhoJames R Lupski
Feb 9, 2012·Molecular Cytogenetics·Oscar MolinaJoan Blanco
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