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KMID : 0613820040140061028
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Journal of Life Science
2004 Volume.14 No. 6 p.1028 ~ p.1039
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Alu sequences and molecular features
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Park Eun-Sil
Hong Kyung-Won
Kim Hee-Soo
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Abstract
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During the past 65 million years, Alu sequences have been amplified through RNA-polymerase Ⅲderived transcripts, and have reached the copy number of about 1.4 million in primate genomes. They are the largest family among mobile genetic elements in human genome and consist of ten percent of the human genome. Alu sequences are thought to be functionless genetically, but many researchers have proved new function and disease implication. Alu elements make the genome insertional mutation, Alu-mediated recombination events, and unexpected splicing site and change gene structures, protein sequences, splicing motifs and expression patterns. In this review, the structure and origin of Alu, consensus sequences of Alu subfamilies, evolution and distribution of Alu, and their related diseases were described. We also indicated new research direction of Alu elements in relation to evolution and disease.
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KEYWORD
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Alu, RNA-polymerase Ⅲ, genetic mobile element, primate evolution
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