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J Assoc Genet Technol. 2004;30(2):41-47.

AluElements: Repetitive DNA as Facilitators of Chromosomal Rearrangement.

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  • 1Section of Cancer Genomics, Genetics Branch, Center for Cancer Research, National Cancer Institute, NIH, 50 South Drive, Room 1408, Bethesda, MD 20892-8010


Alu repeats are the most common type of repetitive DNA sequences dispersed throughout the human genome. Technical advances in the field of cytogenetics and molecular biology have facilitated the analysis of epithelial tumors and hematologic malignancies which has led to the observation of Alu elements in and near sites often involved in chromosomal rearrangements. Repair mechanisms of double strand breaks (DSB) such as homol-ogous recombination (HR) may rely on the sequence homology of Alu repeats, potentially leading to chromosomal rearrange-ments. Databases have confirmed the strong association between Alu repeats, specifically the 26 bp consensus sequence and chro-mosomal regions involved in deletions and translocations. Although the Alu repetitive sequence is a potential "hotspot" during homologous recombination, there are other cellular mech-anisms that may play a more prominent role in the initiation of chromosomal rearrangements.

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