Evolutionary appearance of mononucleotide repeats in the coding sequences of four genes in primates

Paoloni-Giacobino, Ariane; Chaillet, J. Richard

doi:10.1007/s12041-007-0036-5

Cited by 2 publications

(1 citation statement)

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“…These features are largely consistent with twin or dual priming, but the lack of microhomology at the internal junction may suggest a role for NHEJ proteins in the repair process. The homopolymeric stretches resulting from these insertion events could act as sites of instability, contributing to genomic fluidity [48-50]. This study further illustrates the impact L1s have on their host genomes and adds to the diversity of insertion mechanisms.…”

Section: Discussionmentioning

confidence: 85%

Heads or tails: L1 insertion-associated 5' homopolymeric sequences

et al. 2010

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BackgroundL1s are one of the most successful autonomous mobile elements in primate genomes. These elements comprise as much as 17% of primate genomes with the majority of insertions occurring via target primed reverse transcription (TPRT). Twin priming, a variant of TPRT, can result in unusual DNA sequence architecture. These insertions appear to be inverted, truncated L1s flanked by target site duplications.ResultsWe report on loci with sequence architecture consistent with variants of the twin priming mechanism and introduce dual priming, a mechanism that could generate similar sequence characteristics. These insertions take the form of truncated L1s with hallmarks of classical TPRT insertions but having a poly(T) simple repeat at the 5' end of the insertion. We identified loci using computational analyses of the human, chimpanzee, orangutan, rhesus macaque and marmoset genomes. Insertion site characteristics for all putative loci were experimentally verified.ConclusionsThe 39 loci that passed our computational and experimental screens probably represent inversion-deletion events which resulted in a 5' inverted poly(A) tail. Based on our observations of these loci and their local sequence properties, we conclude that they most probably represent twin priming events with unusually short non-inverted portions. We postulate that dual priming could, theoretically, produce the same patterns. The resulting homopolymeric stretches associated with these insertion events may promote genomic instability and create potential target sites for future retrotransposition events.

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Section: Discussionmentioning

confidence: 85%