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TSEN54  encodes a subunit of the tRNA-splicing endonuclease complex, which catalyzes the identification and cleavage of introns from precursor tRNAs. Previously, we identified an  AluSx -derived alternative transcript in  TSEN54  of cynomolgus monkey. Reverse transcription-polymerase chain reaction (RT-PCR) amplification and  TSEN54  sequence analysis of primate and human samples identified five novel alternative transcripts, including the  AluSx  exonized 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 that  AluSx  elements were integrated in human and all of the primate samples tested. Intriguingly, in langur genomic DNA, an additional  AluY  element was inserted into  AluSx  of intron eight of  TSEN54 . The new  AluY  element showed polymorphic insertion. Using standardized nomenclature for  Alu  repeats, the polymorphic  AluY  of the langur  TSEN54  was designated as being of the  AluYl17  subfamily. Our results suggest that integration of the  AluSx  element in  TSEN54  contributed to diversity in transcripts and induced lineage- or species-specific evolutionary events such as alternative splicing and polymorphic insertion during primate evolution.

Identification of Alternative Variants and Insertion of the Novel PolymorphicAluYl17inTSEN54Gene during Primate Evolution