Journal
CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 14, Issue 6, Pages 603-608Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2004.08.008
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- NLM NIH HHS [2 P41 LM 006252-07A1] Funding Source: Medline
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Early studies of human Alu retrotransposons focused on their origin, evolution and biological properties, but current focus is shifting toward the effect of Alu elements on evolution of the human genome. Recent analyses indicate that numerous factors have affected the chromosomal distribution of Alu elements over time, including male-driven insertions, deletions and rapid CpG mutations after their retrotransposition. Unequal crossing over between Alu elements can lead to local mutations or to large segmental duplications responsible for genetic diseases and long-term evolutionary changes. Alu elements can also affect human (primate) evolution by introducing alternative splice sites in existing genes. Studying the Alu family in a human genomic context is likely to have general significance for our understanding of the evolutionary impact of other repetitive elements in diverse eukaryotic genomes.
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