TY - JOUR
T1 - Differential effect of selection against LINE retrotransposons among vertebrates inferred fromwhole-genome data and demographic modeling
AU - Xue, Alexander T.
AU - Ruggiero, Robert P.
AU - Hickerson, Michael J.
AU - Boissinot, Stéphane
N1 - Publisher Copyright:
© The Author(s) 2018.
PY - 2018/5/1
Y1 - 2018/5/1
N2 - Variation in LINE composition is one of themajor 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 clade, L1, whereas nonmammalian vertebrates possess amuch greater diversity of LINEs, yet with orders of magnitude less in copy number. It has been proposed that such variation in copy number amongvertebrates 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-levelwhole-genome data sets for fourmodel 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 appliedthe inferred null demographic model with an additional exponential size change parameter, coupled with model selection, to test for neutrality aswell 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.
AB - Variation in LINE composition is one of themajor 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 clade, L1, whereas nonmammalian vertebrates possess amuch greater diversity of LINEs, yet with orders of magnitude less in copy number. It has been proposed that such variation in copy number amongvertebrates 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-levelwhole-genome data sets for fourmodel 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 appliedthe inferred null demographic model with an additional exponential size change parameter, coupled with model selection, to test for neutrality aswell 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.
KW - Approximate Bayesian computation
KW - Comparative population genomics
KW - Composite likelihood optimization
KW - Purifying selection
KW - Retrotransposons
KW - Transposable elements
UR - http://www.scopus.com/inward/record.url?scp=85050389585&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85050389585&partnerID=8YFLogxK
U2 - 10.1093/gbe/evy083
DO - 10.1093/gbe/evy083
M3 - Article
C2 - 29688421
AN - SCOPUS:85050389585
SN - 1759-6653
VL - 10
SP - 1265
EP - 1281
JO - Genome biology and evolution
JF - Genome biology and evolution
IS - 5
ER -