Differential Effect of Selection against LINE Retrotransposons among Vertebrates Inferred from Whole-Genome Data and Demographic Modeling

Author(s)

Xue, Alexander T. ^{[1, 2, 3, 4]} ; Ruggiero, Robert P. ^[5] ; Hickerson, Michael J. ^{[6, 1, 2]} ; Boissinot, Stephane ^[5]

Affiliation

^[1] CUNY, Grad Ctr, New York, NY 10021 - USA

^[2] CUNY City Coll, Dept Biol Subprogram Ecol Evolutionary Biol & Beh, New York, NY 10031 - USA

^[3] Rutgers State Univ, Dept Genet, Piscataway, NJ - USA

^[4] Rutgers State Univ, Human Genet Inst New Jersey, Piscataway, NJ - USA

^[5] New York Univ Abu Dhabi, Saadiyat Isl Campus, Abu Dhabi - U Arab Emirates

^[6] Amer Museum Nat Hist, Div Invertebrate Zool, New York, NY 10024 - USA

• Document type: Journal article
• Source: GENOME BIOLOGY AND EVOLUTION; v. 10, n. 5, p. 1265-1281, MAY 2018.
• Web of Science Citations: 4

Abstract

Variation in LINE composition is one of the major determinants for the substantial size and structural differences among vertebrate genomes. In particular, the larger genomes of mammals are characterized by hundreds of thousands of copies from a single LINE Glade, L1, whereas nonmammalian vertebrates possess a much greater diversity of LINEs, yet with orders of magnitude less in copy number. It has been proposed that such variation in copy number among vertebrates is due to differential effect of LINE insertions on host fitness. To investigate LINE selection, we deployed a framework of demographic modeling, coalescent simulations, and probabilistic inference against population-level whole-genome data sets for four model species: one population each of threespine stickleback, green anole, and house mouse, as well as three human populations. Specifically, we inferred a null demographic background utilizing SNP data, which was then exploited to simulate a putative null distribution of summary statistics that was compared with LINE data. Subsequently, we applied the inferred null demographic model with an additional exponential size change parameter, coupled with model selection, to test for neutrality as well as estimate the strength of either negative or positive selection. We found a robust signal for purifying selection in anole and mouse, but a lack of clear evidence for selection in stickleback and human. Overall, we demonstrated LINE insertion dynamics that are not in accordance to a mammalian versus nonmammalian dichotomy, and instead the degree of existing LINE activity together with host-specific demographic history may be the main determinants of LINE abundance. (AU)

• FAPESP's process: 13/50297-0 - Dimensions US-BIOTA São Paulo: a multidisciplinary framework for biodiversity prediction in the Brazilian Atlantic forest hotspot
• Grantee: Cristina Yumi Miyaki
• Support Opportunities: BIOTA-FAPESP Program - Thematic Grants