Abstract

In the course of a search for microsatellites as centromeric polymorphic markers at the 3′ ends ofAluor L1 elements, we observed a much higher frequency of L1 thanAluelements embedded within alpha satellite DNA. By sequence analysis of the L1 elements at their alphoid locus of insertion, we found that the insertion site was specific, with the consensus being (Py)2–10/(Pu)3–7. All potential sites within the consensus alphoid 171-bp repeat are occupied by such elements. This confirms the finding by Fenget al.(1996; Human retrotransposon encodes a conserved endonuclease required for retrotransposition,Cell87: 905–916) that the progenitor L1 elements encode a site-specific endonuclease and that they generate copies that are inserted at these specific sites. The analysis of retrotransposed L1 elements within the alphoid domains of the acrocentric chromosomes showed that a number of loci are shared among all five acrocentrics. This sheds light on the manner in which centromeric regions of these chromosomes are exchanging information during evolution.

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