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人类基因组的进化

The evolution of the human genome.

作者信息

Simonti Corinne N, Capra John A

机构信息

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN 37235, USA.

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN 37235, USA; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA; Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235, USA.

出版信息

Curr Opin Genet Dev. 2015 Dec;35:9-15. doi: 10.1016/j.gde.2015.08.005. Epub 2015 Sep 9.

Abstract

Human genomes hold a record of the evolutionary forces that have shaped our species. Advances in DNA sequencing, functional genomics, and population genetic modeling have deepened our understanding of human demographic history, natural selection, and many other long-studied topics. These advances have also revealed many previously underappreciated factors that influence the evolution of the human genome, including functional modifications to DNA and histones, conserved 3D topological chromatin domains, structural variation, and heterogeneous mutation patterns along the genome. Using evolutionary theory as a lens to study these phenomena will lead to significant breakthroughs in understanding what makes us human and why we get sick.

摘要

人类基因组记录了塑造我们这个物种的进化力量。DNA测序、功能基因组学和群体遗传建模方面的进展加深了我们对人类人口历史、自然选择以及许多其他长期研究主题的理解。这些进展还揭示了许多以前未被充分认识的影响人类基因组进化的因素,包括DNA和组蛋白的功能修饰、保守的三维拓扑染色质结构域、结构变异以及基因组上异质性的突变模式。以进化理论为视角来研究这些现象,将在理解是什么造就了我们人类以及我们为何会生病方面带来重大突破。

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本文引用的文献

1
Quantification of GC-biased gene conversion in the human genome.
Genome Res. 2015 Aug;25(8):1215-28. doi: 10.1101/gr.185488.114. Epub 2015 May 20.
2
Evidence for archaic adaptive introgression in humans.
Nat Rev Genet. 2015 Jun;16(6):359-71. doi: 10.1038/nrg3936. Epub 2015 May 12.
3
Estimating the mutation load in human genomes.
Nat Rev Genet. 2015 Jun;16(6):333-43. doi: 10.1038/nrg3931. Epub 2015 May 12.
4
Human genomics. The human transcriptome across tissues and individuals.
Science. 2015 May 8;348(6235):660-5. doi: 10.1126/science.aaa0355.
5
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
Science. 2015 May 8;348(6235):648-60. doi: 10.1126/science.1262110. Epub 2015 May 7.
6
Characteristics of de novo structural changes in the human genome.
Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.
7
Identification of a large set of rare complete human knockouts.
Nat Genet. 2015 May;47(5):448-52. doi: 10.1038/ng.3243. Epub 2015 Mar 25.
8
Three-dimensional genome architecture: players and mechanisms.
Nat Rev Mol Cell Biol. 2015 Apr;16(4):245-57. doi: 10.1038/nrm3965. Epub 2015 Mar 11.
9
Evidence for recent, population-specific evolution of the human mutation rate.
Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3439-44. doi: 10.1073/pnas.1418652112. Epub 2015 Mar 2.
10
The role of regulatory variation in complex traits and disease.
Nat Rev Genet. 2015 Apr;16(4):197-212. doi: 10.1038/nrg3891. Epub 2015 Feb 24.

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