ArticleScientific reports2016
Premature termination codons in modern human genomes.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
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- Noncanonical Amino Acid Incorporation in Mice.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Restoration of dystrophin expression in mice by suppressing a nonsense mutation through the incorporation of unnatural amino acids.Nature biomedical engineering · 2022Article
- Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation.NPJ genomic medicine · 2020Review
- Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data.Frontiers in pharmacology · 2018Review
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Authors and funding
1 author at 1 institution in 1 country.
Funding
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Abstract
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 (FST = 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.
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