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Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved

About 8% of the human genome is made up of endogenous retroviruses (ERVs). Though most human endogenous retroviruses (HERVs) are thought to be irrelevant to our biology notable exceptions include members of the HERV-H family that are necessary for the correct functioning of stem cells. ERVs are comm...

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Autores principales: Gemmell, Patrick, Hein, Jotun, Katzourakis, Aris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905674/
https://www.ncbi.nlm.nih.gov/pubmed/27295277
http://dx.doi.org/10.1371/journal.pcbi.1004964
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author Gemmell, Patrick
Hein, Jotun
Katzourakis, Aris
author_facet Gemmell, Patrick
Hein, Jotun
Katzourakis, Aris
author_sort Gemmell, Patrick
collection PubMed
description About 8% of the human genome is made up of endogenous retroviruses (ERVs). Though most human endogenous retroviruses (HERVs) are thought to be irrelevant to our biology notable exceptions include members of the HERV-H family that are necessary for the correct functioning of stem cells. ERVs are commonly found in two forms, the full-length proviral form, and the more numerous solo-LTR form, thought to result from homologous recombination events. Here we introduce a phylogenetic framework to study ERV insertion and solo-LTR formation. We then apply the framework to site patterns sampled from a set of long alignments covering six primate genomes. Studying six categories of ERVs we quantitatively recapitulate patterns of insertional activity that are usually described in qualitative terms in the literature. A slowdown in most ERV groups is observed but we suggest that HERV-K activity may have increased in humans since they diverged from chimpanzees. We find that the rate of solo-LTR formation decreases rapidly as a function of ERV age and that an age dependent model of solo-LTR formation describes the history of ERVs more accurately than the commonly used exponential decay model. We also demonstrate that HERV-H loci are markedly less likely to form solo-LTRs than ERVs from other families. We conclude that the slower dynamics of HERV-H suggest a host role for the internal regions of these exapted elements and posit that in future it will be possible to use the relationship between full-length proviruses and solo-LTRs to help identify large scale co-options in distant vertebrate genomes.
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spelling pubmed-49056742016-06-28 Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved Gemmell, Patrick Hein, Jotun Katzourakis, Aris PLoS Comput Biol Research Article About 8% of the human genome is made up of endogenous retroviruses (ERVs). Though most human endogenous retroviruses (HERVs) are thought to be irrelevant to our biology notable exceptions include members of the HERV-H family that are necessary for the correct functioning of stem cells. ERVs are commonly found in two forms, the full-length proviral form, and the more numerous solo-LTR form, thought to result from homologous recombination events. Here we introduce a phylogenetic framework to study ERV insertion and solo-LTR formation. We then apply the framework to site patterns sampled from a set of long alignments covering six primate genomes. Studying six categories of ERVs we quantitatively recapitulate patterns of insertional activity that are usually described in qualitative terms in the literature. A slowdown in most ERV groups is observed but we suggest that HERV-K activity may have increased in humans since they diverged from chimpanzees. We find that the rate of solo-LTR formation decreases rapidly as a function of ERV age and that an age dependent model of solo-LTR formation describes the history of ERVs more accurately than the commonly used exponential decay model. We also demonstrate that HERV-H loci are markedly less likely to form solo-LTRs than ERVs from other families. We conclude that the slower dynamics of HERV-H suggest a host role for the internal regions of these exapted elements and posit that in future it will be possible to use the relationship between full-length proviruses and solo-LTRs to help identify large scale co-options in distant vertebrate genomes. Public Library of Science 2016-06-13 /pmc/articles/PMC4905674/ /pubmed/27295277 http://dx.doi.org/10.1371/journal.pcbi.1004964 Text en © 2016 Gemmell et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Gemmell, Patrick
Hein, Jotun
Katzourakis, Aris
Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title_full Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title_fullStr Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title_full_unstemmed Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title_short Phylogenetic Analysis Reveals That ERVs "Die Young" but HERV-H Is Unusually Conserved
title_sort phylogenetic analysis reveals that ervs "die young" but herv-h is unusually conserved
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905674/
https://www.ncbi.nlm.nih.gov/pubmed/27295277
http://dx.doi.org/10.1371/journal.pcbi.1004964
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