Direct repeats flank three small nuclear RNA pseudogenes in the human genome

Abstract

We previously demonstrated that pseudogenes complementary to the small nuclear RNAs U1, U2 and U3 are dispersed and abundant in the human genome. Here we report that three pseudogenes (U1.101, U2.13 and U3.5) are flanked by perfect short direct repeats of 16 to 19 base pairs. In all three pseudogenes. the upstream direct repeat abuts a DNA sequence corresponding to the 5' end of the mature snRNA; in U2.13 and U3.5, the downstream direct repeat immediately follows the truncated 3' end of the snRNA sequence, whereas in U1.101, the downstream direct repeat is separated from the 3, end of the full-length snRNA sequence by a short A-rich region. We consider the direct repeats to be an indication that these three pseudogenes were created by insertion of snRNA information into a new chromosomal locus. To explain why the upstream repeat abuts a DNA sequence complementary to the 5' end of the mature snRNA, we propose a model for insertion that uses a reverse transcript of the snRNA as an intermediate. Furthermore, we note similarities between the structure of all three pseudogene loci and the Alu family of middle repetitive DNA sequences. These similarities suggest that some Alu family sequences are mobile genetic elements that can transpose to new chromosomal loci using as an intermediate a cDNA copy of an RNA transcribed from the Alu family element by RNA polymerase III.