作者
Aikaterini Barbouti, Pawel Stankiewicz, Chad Nusbaum, Christina Cuomo, April Cook, Mattias Höglund, Bertil Johansson, Anne Hagemeijer, Sung-Sup Park, Felix Mitelman, James R Lupski, Thoas Fioretos
发表日期
2004/1/1
期刊
The American Journal of Human Genetics
卷号
74
期号
1
页码范围
1-10
出版商
Elsevier
简介
Although a great deal of information has accumulated regarding the mechanisms underlying constitutional DNA rearrangements associated with inherited disorders, virtually nothing is known about the molecular processes involved in acquired neoplasia-associated chromosomal rearrangements. Isochromosome 17q, or "i(17q)," is one of the most common structural abnormalities observed in human neoplasms. We previously identified a breakpoint cluster region for i(17q) formation in 17p11.2 and hypothesized that genome architectural features could be responsible for this clustering. To address this hypothesis, we precisely mapped the i(17q) breakpoints in 11 patients with different hematologic malignancies and determined the genomic structure of the involved region. Our results reveal a complex genomic architecture in the i(17q) breakpoint cluster region, characterized by large (∼38–49-kb), palindromic, low …
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A Barbouti, P Stankiewicz, C Nusbaum, C Cuomo… - The American Journal of Human Genetics, 2004