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Human Retrotransposons in Health and Disease pp 239–257Cite as

Alu-Alu Recombinations in Genetic Diseases

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Abstract

Mobile elements make up almost half of the human genome. Alu elements are the most successful human mobile element family with 1.1 million Alu elements in the genome. In addition to their ability to cause genetic diseases through insertional mutagenesis, Alu elements contribute to genetic instability due to their sequence similarity and high density in the genome. Nonallelic homologous recombination between Alu elements occurs in somatic and germline cells and subsequently results in chromosomal rearrangements such as duplications, deletions, and inversions associated with many human genetic disorders. These events primarily occur relatively locally within a chromosome, resulting in deletion or duplication of exons in a gene, but they also can occur over larger distances, causing more complex chromosomal abnormalities. We estimate that this mode of mutagenesis accounts for at least 0.5 % of new human genetic diseases. Between these different mechanisms, Alu elements have not only contributed a great deal to the evolution of the genome but also continue to contribute to a significant portion of human genetic diseases.

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

    Maria E. Morales, Geraldine Servant, Catherine M. Ade & Prescott Deininger

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  1. Maria E. Morales
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  2. Geraldine Servant
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  3. Catherine M. Ade
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  4. Prescott Deininger
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Correspondence to Prescott Deininger .

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  1. Institute for Research on Cancer and Aging of Nice (IRCAN), French National Institute of Health and Medical Research (INSERM), Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine, University of Nice-Sophia Antipolis (UNS), Université Côte d’Azur (UCA), Nice, France

    Gael Cristofari

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Morales, M.E., Servant, G., Ade, C.M., Deininger, P. (2017). Alu-Alu Recombinations in Genetic Diseases. In: Cristofari, G. (eds) Human Retrotransposons in Health and Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-48344-3_10

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