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塑造我们 DNA 的随机性。

The randomness that shapes our DNA.

机构信息

Department of Genome Sciences, University of Washington, Seattle, United States.

出版信息

Elife. 2018 Oct 9;7:e41491. doi: 10.7554/eLife.41491.

DOI:10.7554/eLife.41491
PMID:30296995
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6177256/
Abstract

Just 5% of the human genome is subject to neutral evolution, but this process remains central to understanding the history of human migration across the Earth.

摘要

仅有 5%的人类基因组会受到中性进化的影响,但这一过程对于理解人类在地球上的迁移历史仍然至关重要。

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1
The randomness that shapes our DNA.塑造我们 DNA 的随机性。
Elife. 2018 Oct 9;7:e41491. doi: 10.7554/eLife.41491.
2
Background selection and biased gene conversion affect more than 95% of the human genome and bias demographic inferences.背景选择和有偏基因转换影响了超过 95%的人类基因组,并偏向人口统计学推断。
Elife. 2018 Aug 23;7:e36317. doi: 10.7554/eLife.36317.
3
Determining the Effect of Natural Selection on Linked Neutral Divergence across Species.确定自然选择对物种间连锁中性分歧的影响。
PLoS Genet. 2016 Aug 10;12(8):e1006199. doi: 10.1371/journal.pgen.1006199. eCollection 2016 Aug.
4
Integrating genomics, bioinformatics, and classical genetics to study the effects of recombination on genome evolution.整合基因组学、生物信息学和经典遗传学以研究重组对基因组进化的影响。
Mol Biol Evol. 2002 Jul;19(7):1181-97. doi: 10.1093/oxfordjournals.molbev.a004176.
5
Biased gene conversion and the evolution of mammalian genomic landscapes.偏向性基因转换与哺乳动物基因组景观的进化
Annu Rev Genomics Hum Genet. 2009;10:285-311. doi: 10.1146/annurev-genom-082908-150001.
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GC-biased gene conversion conceals the prediction of the nearly neutral theory in avian genomes.GC 偏向性基因转换掩盖了鸟类基因组中近中性理论的预测。
Genome Biol. 2019 Jan 7;20(1):5. doi: 10.1186/s13059-018-1613-z.
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GC-biased gene conversion links the recombination landscape and demography to genomic base composition: GC-biased gene conversion drives genomic base composition across a wide range of species.GC偏向性基因转换将重组图谱和种群统计学与基因组碱基组成联系起来:GC偏向性基因转换驱动了广泛物种的基因组碱基组成。
Bioessays. 2015 Dec;37(12):1317-26. doi: 10.1002/bies.201500058. Epub 2015 Oct 7.
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Nonallelic gene conversion is not GC-biased in Drosophila or primates.非等位基因转换在果蝇或灵长类动物中没有 GC 偏倚。
Mol Biol Evol. 2012 May;29(5):1291-5. doi: 10.1093/molbev/msr304. Epub 2011 Dec 8.
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Interaction between selection and biased gene conversion in mammalian protein-coding sequence evolution revealed by a phylogenetic covariance analysis.系统发育协方差分析揭示了哺乳动物蛋白质编码序列进化中的选择与偏性基因转换之间的相互作用。
Mol Biol Evol. 2013 Feb;30(2):356-68. doi: 10.1093/molbev/mss231. Epub 2012 Sep 29.
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Biased Inference of Selection Due to GC-Biased Gene Conversion and the Rate of Protein Evolution in Flycatchers When Accounting for It.GC 偏倚性基因转换导致的选择偏倚推断及其在食虫鸟蛋白质进化率中的作用。
Mol Biol Evol. 2018 Oct 1;35(10):2475-2486. doi: 10.1093/molbev/msy149.

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Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies.肿瘤体细胞突变也可能作为种系多态性存在,这有助于从全基因组关联研究中识别功能性单核苷酸多态性。
Carcinogenesis. 2020 Oct 15;41(10):1353-1362. doi: 10.1093/carcin/bgaa077.
2
Ancestry informative markers (AIMs) for Korean and other East Asian and South East Asian populations.韩国及其他东亚和东南亚人群的遗传信息标记(AIMs)。
Int J Legal Med. 2019 Nov;133(6):1711-1719. doi: 10.1007/s00414-019-02129-7. Epub 2019 Aug 7.

本文引用的文献

1
Background selection and biased gene conversion affect more than 95% of the human genome and bias demographic inferences.背景选择和有偏基因转换影响了超过 95%的人类基因组,并偏向人口统计学推断。
Elife. 2018 Aug 23;7:e36317. doi: 10.7554/eLife.36317.
2
An Upper Limit on the Functional Fraction of the Human Genome.人类基因组功能部分的上限
Genome Biol Evol. 2017 Jul 1;9(7):1880-1885. doi: 10.1093/gbe/evx121.
3
Effects of Linked Selective Sweeps on Demographic Inference and Model Selection.连锁选择性清除对群体推断和模型选择的影响。
Genetics. 2016 Nov;204(3):1207-1223. doi: 10.1534/genetics.116.190223. Epub 2016 Sep 7.
4
The consequences of not accounting for background selection in demographic inference.在人口统计学推断中不考虑背景选择的后果。
Mol Ecol. 2016 Jan;25(1):135-41. doi: 10.1111/mec.13390. Epub 2015 Oct 30.
5
8.2% of the Human genome is constrained: variation in rates of turnover across functional element classes in the human lineage.人类基因组的8.2%受到限制:人类谱系中各功能元件类别的周转率差异。
PLoS Genet. 2014 Jul 24;10(7):e1004525. doi: 10.1371/journal.pgen.1004525. eCollection 2014 Jul.
6
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data.从多维 SNP 频率数据推断多个群体的联合人口历史。
PLoS Genet. 2009 Oct;5(10):e1000695. doi: 10.1371/journal.pgen.1000695. Epub 2009 Oct 23.
7
GC-content evolution in mammalian genomes: the biased gene conversion hypothesis.哺乳动物基因组中的GC含量进化:偏向性基因转换假说
Genetics. 2001 Oct;159(2):907-11. doi: 10.1093/genetics/159.2.907.
8
The effect of deleterious mutations on neutral molecular variation.有害突变对中性分子变异的影响。
Genetics. 1993 Aug;134(4):1289-303. doi: 10.1093/genetics/134.4.1289.
9
Evolutionary rate at the molecular level.分子水平的进化速率。
Nature. 1968 Feb 17;217(5129):624-6. doi: 10.1038/217624a0.
10
The hitch-hiking effect of a favourable gene.有利基因的搭便车效应。
Genet Res. 1974 Feb;23(1):23-35.