Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.

Retroviral infections of the germline have the potential to episodically alter gene function and genome structure during the course of evolution. Horizontal transmissions between species have been proposed, but little evidence exists for such events in the human/great ape lineage of evolution. Based...

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Main Authors: Chris T Yohn, Zhaoshi Jiang, Sean D McGrath, Karen E Hayden, Philipp Khaitovich, Matthew E Johnson, Marla Y Eichler, John D McPherson, Shaying Zhao, Svante Pääbo, Evan E Eichler
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2005-04-01
Series:PLoS Biology
Online Access:https://doi.org/10.1371/journal.pbio.0030110
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author Chris T Yohn
Zhaoshi Jiang
Sean D McGrath
Karen E Hayden
Philipp Khaitovich
Matthew E Johnson
Marla Y Eichler
John D McPherson
Shaying Zhao
Svante Pääbo
Evan E Eichler
author_facet Chris T Yohn
Zhaoshi Jiang
Sean D McGrath
Karen E Hayden
Philipp Khaitovich
Matthew E Johnson
Marla Y Eichler
John D McPherson
Shaying Zhao
Svante Pääbo
Evan E Eichler
author_sort Chris T Yohn
collection DOAJ
description Retroviral infections of the germline have the potential to episodically alter gene function and genome structure during the course of evolution. Horizontal transmissions between species have been proposed, but little evidence exists for such events in the human/great ape lineage of evolution. Based on analysis of finished BAC chimpanzee genome sequence, we characterize a retroviral element (Pan troglodytes endogenous retrovirus 1 [PTERV1]) that has become integrated in the germline of African great ape and Old World monkey species but is absent from humans and Asian ape genomes. We unambiguously map 287 retroviral integration sites and determine that approximately 95.8% of the insertions occur at non-orthologous regions between closely related species. Phylogenetic analysis of the endogenous retrovirus reveals that the gorilla and chimpanzee elements share a monophyletic origin with a subset of the Old World monkey retroviral elements, but that the average sequence divergence exceeds neutral expectation for a strictly nuclear inherited DNA molecule. Within the chimpanzee, there is a significant integration bias against genes, with only 14 of these insertions mapping within intronic regions. Six out of ten of these genes, for which there are expression data, show significant differences in transcript expression between human and chimpanzee. Our data are consistent with a retroviral infection that bombarded the genomes of chimpanzees and gorillas independently and concurrently, 3-4 million years ago. We speculate on the potential impact of such recent events on the evolution of humans and great apes.
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spelling doaj.art-b4c90a9daaae46a2b92783c6c258b3892022-12-21T22:37:58ZengPublic Library of Science (PLoS)PLoS Biology1544-91731545-78852005-04-0134e11010.1371/journal.pbio.0030110Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.Chris T YohnZhaoshi JiangSean D McGrathKaren E HaydenPhilipp KhaitovichMatthew E JohnsonMarla Y EichlerJohn D McPhersonShaying ZhaoSvante PääboEvan E EichlerRetroviral infections of the germline have the potential to episodically alter gene function and genome structure during the course of evolution. Horizontal transmissions between species have been proposed, but little evidence exists for such events in the human/great ape lineage of evolution. Based on analysis of finished BAC chimpanzee genome sequence, we characterize a retroviral element (Pan troglodytes endogenous retrovirus 1 [PTERV1]) that has become integrated in the germline of African great ape and Old World monkey species but is absent from humans and Asian ape genomes. We unambiguously map 287 retroviral integration sites and determine that approximately 95.8% of the insertions occur at non-orthologous regions between closely related species. Phylogenetic analysis of the endogenous retrovirus reveals that the gorilla and chimpanzee elements share a monophyletic origin with a subset of the Old World monkey retroviral elements, but that the average sequence divergence exceeds neutral expectation for a strictly nuclear inherited DNA molecule. Within the chimpanzee, there is a significant integration bias against genes, with only 14 of these insertions mapping within intronic regions. Six out of ten of these genes, for which there are expression data, show significant differences in transcript expression between human and chimpanzee. Our data are consistent with a retroviral infection that bombarded the genomes of chimpanzees and gorillas independently and concurrently, 3-4 million years ago. We speculate on the potential impact of such recent events on the evolution of humans and great apes.https://doi.org/10.1371/journal.pbio.0030110
spellingShingle Chris T Yohn
Zhaoshi Jiang
Sean D McGrath
Karen E Hayden
Philipp Khaitovich
Matthew E Johnson
Marla Y Eichler
John D McPherson
Shaying Zhao
Svante Pääbo
Evan E Eichler
Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
PLoS Biology
title Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
title_full Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
title_fullStr Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
title_full_unstemmed Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
title_short Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
title_sort lineage specific expansions of retroviral insertions within the genomes of african great apes but not humans and orangutans
url https://doi.org/10.1371/journal.pbio.0030110
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