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Endangered Species Hold Clues to Human Evolution
We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an altern...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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Oxford University Press
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884192/ https://www.ncbi.nlm.nih.gov/pubmed/20332163 http://dx.doi.org/10.1093/jhered/esq016 |
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author | Lowe, Craig B. Bejerano, Gill Salama, Sofie R. Haussler, David |
author_facet | Lowe, Craig B. Bejerano, Gill Salama, Sofie R. Haussler, David |
author_sort | Lowe, Craig B. |
collection | PubMed |
description | We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an alternatively spliced exon that causes nonsense-mediated decay of the transcript. The retroposon that gave rise to these functional elements was quickly inactivated in the mammalian ancestor, and all traces of it have been lost due to neutral decay. However, the tuatara has maintained a near-ancestral version of this retroposon in its extant genome, which allows us to connect the 18 human elements to the evolutionary events that created them. We propose that conservation efforts over more than 100 years may not have only prevented the tuatara from going extinct but could have preserved our ability to understand the evolutionary history of functional elements in the human genome. Through simulations, we argue that species with historically low population sizes are more likely to harbor ancient mobile elements for long periods of time and in near-ancestral states, making these species indispensable in understanding the evolutionary origin of functional elements in the human genome. |
format | Text |
id | pubmed-2884192 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-28841922010-06-15 Endangered Species Hold Clues to Human Evolution Lowe, Craig B. Bejerano, Gill Salama, Sofie R. Haussler, David J Hered Original Articles We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an alternatively spliced exon that causes nonsense-mediated decay of the transcript. The retroposon that gave rise to these functional elements was quickly inactivated in the mammalian ancestor, and all traces of it have been lost due to neutral decay. However, the tuatara has maintained a near-ancestral version of this retroposon in its extant genome, which allows us to connect the 18 human elements to the evolutionary events that created them. We propose that conservation efforts over more than 100 years may not have only prevented the tuatara from going extinct but could have preserved our ability to understand the evolutionary history of functional elements in the human genome. Through simulations, we argue that species with historically low population sizes are more likely to harbor ancient mobile elements for long periods of time and in near-ancestral states, making these species indispensable in understanding the evolutionary origin of functional elements in the human genome. Oxford University Press 2010 2010-03-23 /pmc/articles/PMC2884192/ /pubmed/20332163 http://dx.doi.org/10.1093/jhered/esq016 Text en © The American Genetic Association. 2010. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses?by-nc/2.5), which permits unrestricted non-commercial use distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Lowe, Craig B. Bejerano, Gill Salama, Sofie R. Haussler, David Endangered Species Hold Clues to Human Evolution |
title | Endangered Species Hold Clues to Human Evolution |
title_full | Endangered Species Hold Clues to Human Evolution |
title_fullStr | Endangered Species Hold Clues to Human Evolution |
title_full_unstemmed | Endangered Species Hold Clues to Human Evolution |
title_short | Endangered Species Hold Clues to Human Evolution |
title_sort | endangered species hold clues to human evolution |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884192/ https://www.ncbi.nlm.nih.gov/pubmed/20332163 http://dx.doi.org/10.1093/jhered/esq016 |
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