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Phylogenomic analysis reveals splicing as a mechanism of parallel evolution of non-canonical SVAs in hominine primates

Authors :
Annette Damert
Source :
Mobile DNA, Vol 9, Iss 1, Pp 1-13 (2018)
Publication Year :
2018
Publisher :
BMC, 2018.

Abstract

Abstract SVA (SINE-R-VNTR-Alu) elements are non-autonomous non-LTR (Long Terminal Repeat) retrotransposons. They are found in all hominoid primates but did not amplify to appreciable numbers in gibbons. Recently, phylogenetic networks of hominid (orangutan, gorilla, chimpanzee, human) SVA elements based on comparison of overall sequence identity have been reported. Here I present a detailed phylogeny of SVA_D elements in gorilla, chimpanzee and humans based on sorting of co-segregating substitutions. Complementary comparative genomics analysis revealed that the majority (1763 out of 1826–97%) of SVA_D elements in gorilla represent species-specific insertions – indicating very low activity of the subfamily before the gorilla/chimpanzee-human split. The origin of the human-specific subfamily SVA_F could be traced back to a source element in the hominine common ancestor. The major expanding lineage-specific subfamilies were found to differ between chimpanzee and humans. Precursors of the dominant chimpanzee SVA_D subfamily are present in humans; however, they did not expand to appreciable levels. The analysis also uncovered that one of the chimpanzee-specific subfamilies was formed by splicing of the STK40 first exon to the SVA Alu-like region. Many of the 94 subfamily members contain additional 5′ transductions – among them exons of 8 different other genes. Striking similarities to the MAST2-containing human SVA_F1 suggest parallel evolution of non-canonical SVAs in chimpanzees and humans.

Subjects

Subjects :
Genetics
QH426-470

Details

Language :
English
ISSN :
17598753
Volume :
9
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Mobile DNA
Publication Type :
Academic Journal
Accession number :
edsdoj.be28e2282c049c681be79254e275163
Document Type :
article
Full Text :
https://doi.org/10.1186/s13100-018-0135-2