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Scientists track stealth DNA elements in primate evolution

still actively mobilizing in the human genome, causing insertion mutations that have led to the development of a number of heritable diseases.

Dr. Batzer's team demonstrated that some AluYb subfamily members have orthologs in all primate genomes tested, which dates the AluYb linage to an origin approximately 18-25 million years ago. Their results also indicated that the AluYb subfamily underwent a major species-specific expansion in the human genome during the past 3-4 million years. This apparent 20-million-year stretch of retrotranspositional quiescence, followed by a sudden outburst of human-specific retrotransposition activity in the past few million years, led Dr. Batzer and colleagues to formulate a new theory for the evolution of Alu elements, termed the "stealth driver" model. In the "stealth driver" model, low-activity Alu elements are maintained in low-copy number for long periods of time and occasionally produce short-lived hyperactive progeny that contribute to the formation and expansion of Alu elements in the human genome.

To date, the most widely accepted theory of Alu retrotransposition is called the "master gene" theory, which asserts that the majority of Alu retrotransposition activity is driven by a small number of hyperactive "master" sequences. In this model, mutations occurring in the "master" copies have rendered themselves capable of substantial propagation and persistence over time. However, prior evidence from the Ya5 subfamily indicated that at least some "master" Alu elements may persist in low-copy numbers for long periods of evolutionary time without retrotranspositional activity, suggesting that the mechanisms of Alu expansion may be much more complex. These observations led Dr. Batzer and his co-workers to examine the Yb subfamily of Alu elements, to demonstrate that the Yb subfamily has a similar evolutionary pattern to that of AluYa5, and to formulate the "stealth driver" hypothesis for the evolution of these Alu ele
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Source:Cold Spring Harbor Laboratory


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