Phylogenetic shadowing of primate sequences to find functional regions of the human genome
Phylogenetic shadowing of primate sequences to find functional regions of the human genome
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DOI：
10.1126/science.1081331
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发表时间：
2003-02-28
期刊：
影响因子：
56.9
通讯作者：
Rubin, EM
中科院分区：
文献类型：
--
作者：
Boffelli, D;McAuliffe, J;Rubin, EM
非人类灵长类动物代表了理解智人生物学最相关的模式生物。然而，最近该分类群各个成员之间的分歧和相关的整体序列保守性在很大程度上排除了灵长类动物在比较序列研究中的使用。我们使用大量旧世界和新世界猴子和类人猿的序列比较来识别人类基因组中的功能区域。对这些数据的分析使得能够发现灵长类动物特异性基因调控元件并划分多个基因的外显子。综合灵长类动物序列比较的大部分信息内容可以通过系统发育上接近的灵长类动物的一小部分来捕获。这些结果证明了灵长类动物内序列比较对于发现人类基因组中常见哺乳动物以及灵长类动物特异性功能元件的效用，这是通过评估进化上距离较远的物种无法实现的。
Nonhuman primates represent the most relevant model organisms to understand the biology of Homo sapiens. The recent divergence and associated overall sequence conservation between individual members of this taxon have nonetheless largely precluded the use of primates in comparative sequence studies. We used sequence comparisons of an extensive set of Old World and New World monkeys and hominoids to identify functional regions in the human genome. Analysis of these data enabled the discovery of primate-specific gene regulatory elements and the demarcation of the exons of multiple genes. Much of the information content of the comprehensive primate sequence comparisons could be captured with a small subset of phylogenetically close primates. These results demonstrate the utility of intraprimate sequence comparisons to discover common mammalian as well as primate-specific functional elements in the human genome, which are unattainable through the evaluation of more evolutionarily distant species.