title: Structural Variation ofAluElement and Human Disease.
abstract: Transposable elements are one of major sources to cause genomic instability through various mechanisms includingde novoinsertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them isAluelement which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes.Aluelement is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explainAluelement amplification in primate genomes. According to the model, different subfamilies ofAluelements are created by mutations on the master gene and mostAluelements are amplified from the hyperactive master genes.Aluelement is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused byAluelements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact,Aluelements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms ofAluamplification and diversity among differentAlusubfamilies. The second part discusses the particular role ofAluelements in generating genomic rearrangements as well as human genetic disorders.
authors.affiliation: Department of Nanobiomedical Science, Dankook University, Cheonan 31116, Korea.; BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Korea.
authors.forename: Songmi
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Neurosurgery, Dankook University College of Medicine, Cheonan 31116, Korea.
authors.forename: Chun-Sung
authors.initials: CS
authors.lastname: Cho
authors.affiliation: Department of Nanobiomedical Science, Dankook University, Cheonan 31116, Korea.; BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Korea.
authors.forename: Kyudong
authors.initials: K
authors.lastname: Han
authors.affiliation: Division of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, University of Florida, Gainesville, FL 32610, USA.
authors.forename: Jungnam
authors.initials: J
authors.lastname: Lee
keywords: Alu elements; genetic disorder; genomic rearrangement; master gene model; recombination