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Premature termination codons in modern human genomes
The considerable range of genetic variation in human populations may partly reflect distinctive processes of adaptation to variable environmental conditions. However, the adaptive genomic signatures remain to be completely elucidated. This research explores candidate loci under selection at the popu...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773809/ https://www.ncbi.nlm.nih.gov/pubmed/26932450 http://dx.doi.org/10.1038/srep22468 |
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author | Fujikura, Kohei |
author_facet | Fujikura, Kohei |
author_sort | Fujikura, Kohei |
collection | PubMed |
description | The considerable range of genetic variation in human populations may partly reflect distinctive processes of adaptation to variable environmental conditions. However, the adaptive genomic signatures remain to be completely elucidated. This research explores candidate loci under selection at the population level by characterizing recently arisen premature termination codons (PTCs), some of which indicate a human knockout. From a total of 7595 participants from two population exome projects, 246 PTCs were found where natural selection has resulted in new alleles with a high frequency (from 1% to 96%) of derived alleles and various levels of population differentiation (F(ST) = 0.00139–0.626). The PTC genes formed protein and regulatory networks limited to 15 biological processes or gene families, of which seven categories were previously unreported. PTC mutations have a strong tendency to be introduced into members of the same gene family, even during modern human evolution, although the exact nature of the selection is not fully known. The findings here suggest the ongoing evolutionary plasticity of modern humans at the genetic level and also partly provide insights into common human knockouts. |
format | Online Article Text |
id | pubmed-4773809 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-47738092016-03-09 Premature termination codons in modern human genomes Fujikura, Kohei Sci Rep Article The considerable range of genetic variation in human populations may partly reflect distinctive processes of adaptation to variable environmental conditions. However, the adaptive genomic signatures remain to be completely elucidated. This research explores candidate loci under selection at the population level by characterizing recently arisen premature termination codons (PTCs), some of which indicate a human knockout. From a total of 7595 participants from two population exome projects, 246 PTCs were found where natural selection has resulted in new alleles with a high frequency (from 1% to 96%) of derived alleles and various levels of population differentiation (F(ST) = 0.00139–0.626). The PTC genes formed protein and regulatory networks limited to 15 biological processes or gene families, of which seven categories were previously unreported. PTC mutations have a strong tendency to be introduced into members of the same gene family, even during modern human evolution, although the exact nature of the selection is not fully known. The findings here suggest the ongoing evolutionary plasticity of modern humans at the genetic level and also partly provide insights into common human knockouts. Nature Publishing Group 2016-03-02 /pmc/articles/PMC4773809/ /pubmed/26932450 http://dx.doi.org/10.1038/srep22468 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Fujikura, Kohei Premature termination codons in modern human genomes |
title | Premature termination codons in modern human genomes |
title_full | Premature termination codons in modern human genomes |
title_fullStr | Premature termination codons in modern human genomes |
title_full_unstemmed | Premature termination codons in modern human genomes |
title_short | Premature termination codons in modern human genomes |
title_sort | premature termination codons in modern human genomes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773809/ https://www.ncbi.nlm.nih.gov/pubmed/26932450 http://dx.doi.org/10.1038/srep22468 |
work_keys_str_mv | AT fujikurakohei prematureterminationcodonsinmodernhumangenomes |