一个高分辨率地图的人类进化约束使用29种哺乳动物
Kerstin Lindblad-Toh1, Manuel Garber, Or Zuk
1Broad Institute of Harvard and Massachusetts Institute of Technology, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA. kersli@broadinstitute.org
Nature
|October 14, 2011
概括
对29种eutherian物种的比较基因组分析揭示了保存的元素,确定了潜在的调节区域和与疾病相关的变异. 这项研究增强了我们对基因组进化和功能的理解.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 生物信息学是一种生物信息学.
背景情况:
- 对比基因组学对于解释基因组功能至关重要.
- 了解保存的基因组元素为进化压力提供了见解.
研究的目的:
- 测序和比较分析29个eutherian基因组.
- 识别和描述保存的基因组元素及其功能.
主要方法:
- 对29种类动物的全基因组测序.
- 使用进化特征进行比较基因组分析.
- 与实验数据集集的集成以推断功能.
主要成果:
- 已证实对至少5.5%的人类基因组起作用的净化选择,受约束元素覆盖~4.2%.
- 确定了约60%受约束的候选函数,包括新的编码外子,RNA结构和调节元件 (促进剂,增强剂,隔离剂).
- 发现了灵长类动物和人类加速的元素,积极选择的氨基酸残留物和移动元素.
结论:
- 这项研究提供了整个eutherian基因组中保存的元素的全面目录.
- 研究结果提供了对基因组进化,调节元件功能以及人类健康和疾病中的潜在作用的见解.
- 在保护区内发现的与疾病相关的变异突出显示了临床相关性.
相关概念视频
01:23Phylogeny
Phylogeny is concerned with the evolutionary diversification of organisms or groups of organisms. A group of organisms with a name is called a taxon (singular). Taxa (plural) can span different levels of the evolutionary hierarchy. For instance, the group containing all birds is a taxon (comprising the class Aves), and the group of all species of daisies (the genus Bellis) is a taxon. Phylogenies can likewise include just one genus (i.e., depict species relationships) or span an entire kingdom.
01:38Limits to Natural Selection
Organisms that are well-adapted to their environment are more likely to survive and reproduce. However, natural selection does not lead to perfectly adapted organisms. Several factors constrain natural selection.
01:54Convergent Evolution
Evolution shapes the features of organisms over time, ensuring that they are suited for the environments in which they live. Sometimes, selection pressure leads to the rise of similar but unrelated adaptations in organisms with no recent common ancestors, a process known as convergent evolution.
02:54Evolutionary Relationships through Genome Comparisons
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02:31Synteny and Evolution
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02:51Multi-species Conserved Sequences
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
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