In:
BMC Evolutionary Biology, Springer Science and Business Media LLC, Vol. 20, No. 1 ( 2020-12)
Abstract:
Alternative splicing (AS) generates various transcripts from a single gene and thus plays a significant role in transcriptomic diversity and proteomic complexity. Alu elements are primate-specific transposable elements (TEs) and can provide a donor or acceptor site for AS. In a study on TE-mediated AS, we recently identified a novel Alu Sz6-exonized ACTR8 transcript of the crab-eating monkey ( Macaca fascicularis ). In the present study, we sought to determine the molecular mechanism of Alu Sz6 exonization of the ACTR8 gene and investigate its evolutionary and functional consequences in the crab-eating monkey. Results We performed RT-PCR and genomic PCR to analyze Alu Sz6 exonization in the ACTR8 gene and the expression of the Alu Sz6-exonized transcript in nine primate samples, including prosimians, New world monkeys, Old world monkeys, and hominoids. Alu Sz6 integration was estimated to have occurred before the divergence of simians and prosimians. The Alu -exonized transcript obtained by AS was lineage-specific and expressed only in Old world monkeys and apes, and humans. This lineage-specific expression was caused by a single G duplication in Alu Sz6, which provides a new canonical 5′ splicing site. We further identified other alternative transcripts that were unaffected by the Alu Sz6 insertion. Finally, we observed that the alternative transcripts were transcribed into new isoforms with C-terminus deletion, and in silico analysis showed that these isoforms do not have a destructive function. Conclusions The single G duplication in the TE sequence is the source of TE exonization and AS, and this mutation may suffer a different fate of ACTR8 gene expression during primate evolution.
Type of Medium:
Online Resource
ISSN:
1471-2148
DOI:
10.1186/s12862-020-01620-9
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2020
detail.hit.zdb_id:
2041493-6
detail.hit.zdb_id:
3053924-9
SSG:
12
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