Identification of Alternative Variants and Insertion of the Novel PolymorphicAluYl17inTSEN54Gene during Primate Evolution
TSEN54encodes a subunit of the tRNA-splicing endonuclease complex, which catalyzes the identification and cleavage of introns from precursor tRNAs. Previously, we identified anAluSx-derived alternative transcript inTSEN54of cynomolgus monkey. Reverse transcription-polymerase chain reaction (RT-PCR) amplification andTSEN54sequence analysis of primate and human samples identified five novel alternative transcripts, including theAluSxexonized transcript. Additionally, we performed comparative expression analysis via RT-qPCR in various cynomolgus, rhesus monkey, and human tissues. RT-qPCR amplification revealed differential expression patterns. Furthermore, genomic PCR amplification and sequencing of primate and human DNA samples revealed thatAluSxelements were integrated in human and all of the primate samples tested. Intriguingly, in langur genomic DNA, an additionalAluYelement was inserted intoAluSxof intron eight ofTSEN54. The newAluYelement showed polymorphic insertion. Using standardized nomenclature forAlurepeats, the polymorphicAluYof the langurTSEN54was designated as being of theAluYl17subfamily. Our results suggest that integration of theAluSxelement inTSEN54contributed to diversity in transcripts and induced lineage- or species-specific evolutionary events such as alternative splicing and polymorphic insertion during primate evolution.