人类谱系中特有的遗传和基因组特征的演变。
Evolution of genetic and genomic features unique to the human lineage.
机构信息
Department of Biochemistry and Molecular Genetics, Human Medical Genetics and Neuroscience Programs, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.
出版信息
Nat Rev Genet. 2012 Dec;13(12):853-66. doi: 10.1038/nrg3336.
Abstract
Given the unprecedented tools that are now available for rapidly comparing genomes, the identification and study of genetic and genomic changes that are unique to our species have accelerated, and we are entering a golden age of human evolutionary genomics. Here we provide an overview of these efforts, highlighting important recent discoveries, examples of the different types of human-specific genomic and genetic changes identified, and salient trends, such as the localization of evolutionary adaptive changes to complex loci that are highly enriched for disease associations. Finally, we discuss the remaining challenges, such as the incomplete nature of current genome sequence assemblies and difficulties in linking human-specific genomic changes to human-specific phenotypic traits.
摘要
鉴于现在有了用于快速比较基因组的空前工具，对我们人类特有的遗传和基因组变化的识别和研究已经加速，我们正进入人类进化基因组学的黄金时代。在这里，我们概述了这些努力，重点介绍了最近的重要发现、已鉴定的不同类型的人类特有基因组和遗传变化的例子，以及显著的趋势，例如进化适应性变化定位于与疾病关联高度富集的复杂基因座。最后，我们讨论了一些仍存在的挑战，例如当前基因组序列组装的不完整性以及将人类特有基因组变化与人类特有表型特征联系起来的困难。
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1
Heart disease is common in humans and chimpanzees, but is caused by different pathological processes.心脏病在人类和黑猩猩中都很常见，但由不同的病理过程引起。
Evol Appl. 2009 Feb;2(1):101-12. doi: 10.1111/j.1752-4571.2008.00064.x.
2
Evolutionary history and genome organization of DUF1220 protein domains.DUF1220 蛋白结构域的进化历史和基因组组织。
G3 (Bethesda). 2012 Sep;2(9):977-86. doi: 10.1534/g3.112.003061. Epub 2012 Sep 1.
3
DUF1220-domain copy number implicated in human brain-size pathology and evolution.DUF1220 结构域拷贝数变异与人类大脑尺寸病理和进化有关。
Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16.
4
The bonobo genome compared with the chimpanzee and human genomes.倭黑猩猩基因组与黑猩猩和人类基因组比较。
Nature. 2012 Jun 28;486(7404):527-31. doi: 10.1038/nature11128.
5
Comparative studies of gene expression and the evolution of gene regulation.基因表达与基因调控进化的比较研究。
Nat Rev Genet. 2012 Jun 18;13(7):505-16. doi: 10.1038/nrg3229.
6
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution.人类进化过程中两个免疫调节性 SIGLEC 基因的特异性失活。
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7
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Cell. 2012 May 11;149(4):923-35. doi: 10.1016/j.cell.2012.03.034. Epub 2012 May 3.
8
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