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Alu Elements

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Genomic Disorders

Abstract

Alu elements represent one of the most successful mobile elements found in any genome. They have reached a copy number in excess of one million copies, making up more than 10% of the human genome. The level of amplification required to reach this high copy number has created an enormous number of insertion mutations resulting in human disease and genome evolution. They also add extensive diversity to the genome by introducing alternative splicing and editing to a wide range of RNA transcripts. In addition, after insertion Alu elements contribute to a high level of genetic instability through recombination. This instability contributes to a significant number of germ-line mutations and may be an even bigger factor in cancer and/or aging.

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  1. Department of Epidemiology, Tulane Cancer Center, Tulane University Health Sciences Center, New Orleans, LA

    Prescott Deininger PhD

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  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD  & Pawel Stankiewicz MD, PhD  & 

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Deininger, P. (2006). Alu Elements. In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_2

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  • DOI: https://doi.org/10.1007/978-1-59745-039-3_2

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