An Ancient RNase H1 Splice Junction Mutant Preserved in a 19-Million-Year-Old Genetic Fossil in Ape Genomes

A retroprocessed pseudogene (retropseudogene) descended from the gene encoding ribonuclease (RNase) H1 has been found in ape genomes that preserves a splice junction mutation event that altered the carboxyl-terminal end of the enzyme. The GT --> GC transition mutant at the 5' splice junction of RNase H1 exon 7/intron 7 led to the absence of exon 8 and more than 1 kb of intron 7 sequence being substituted. Comparison of source gene and pseudogene sequences indicates that the retrotranscription event occurred 19 million years ago. Present in these sequences is an in-frame stop and several available polyadenylation signals, suggesting that the mutant allele could have been translated. At the present time, the genetic fossil is the only evidence that the mutation ever occurred, and thus represents an archival marker of an ancient genetic event in primate evolution.