Mosaic structure and retropositional dynamics during evolution of subfamilies of short interspersed elements in African cichlids.

The African cichlid (AFC) family of short interspersed elements (SINEs) is found in the genomes of cichlid fish. The alignment of the sequences of 70 members of this family, isolated from such fish in Africa, revealed the presence of correlated changes in specific nucleotides (diagnostic nucleotides) that allowed us to categorize the various members into six subfamilies, which were designated Af1 through Af6. Dividing the SINE consensus sequence into a 5'-head and 3'-tail region, these subfamilies were defined by various combinations of four types of head region (A-D) and three types of tail region [X, Y, and (YX)], with each region of each type including unique diagnostic nucleotides. The observed structures of the subfamilies Af1 through Af6 were AX, AY, CY, A(YX), BY, and DX, respectively. The formation of such structures might have involved the shuffling of head or tail regions among preexisting and existing (or both) subfamilies of the AFC family (and, probably, even another SINE family or a pseudogene for a tRNA in the case of the Af6 subfamily) by recombination at the so-called core region during the course of evolution. By plotting the timing of the retroposition of individual members of each subfamily on a phylogenetic tree of AFCs, we found that the Af3 and Af6 subfamilies became active only recently in the evolutionary history of these fish. The integrity of the 3'-tails of SINEs, which are, apparently, recognized by reverse transcriptase, has been reported to be indispensable for retention of retropositional activity. Therefore, we postulate that recombination might have been involved in the apparent recent activation of the retroposition of the Af3 and Af6 subfamilies via introduction of active tails (types Y and X, respectively) into potential ancestral sequences that might have had inactive tails. If this hypothesis is correct, shuffling of tail regions among subfamilies by recombination at the core region might have played a role in the recycling of dead copies of AFC SINEs.