灵长类序列的遗传学影像测试,以找到人类基因组的功能区域
Dario Boffelli1, Jon McAuliffe, Dmitriy Ovcharenko
1U.S. Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA.
Science (New York, N.Y.)
|March 1, 2003
概括
通过比较灵长类动物的基因组,可以发现人类DNA中的功能元素. 这种方法可以识别共同的哺乳动物和独特的灵长类特定遗传区域,提高我们对人类生物学的理解.
科学领域:
- 基因组学就是基因组学.
- 进行比较的基因组学.
- 人类进化人类的进化.
背景情况:
- 非人类灵长类动物是Homo sapiens生物学的关键模型,这是由于最近的分歧和序列保护.
- 以前的比较序列研究受限于灵长类的进化接近.
- 识别功能性基因组区域需要有效的比较策略.
研究的目的:
- 利用跨不同灵长类动物的序列比较来识别人类基因组中的功能区域.
- 发现灵长类动物特有的基因调节元件和基因外基因.
- 评估原生动物内比较对发现保存和独特的人类基因组元素的有用性.
主要方法:
- 旧世界子,新世界子和人类类动物的比较序列分析.
- 利用一组基因密切的灵长类动物的子集来捕获重要的信息内容.
- 评估与更遥远的物种相比,原始动物内比较的有效性.
主要成果:
- 在人类基因组中发现了新的灵长类动物特异性基因调节元件.
- 通过比较分析对多个人类基因的外子进行准确的划分.
- 证明一小群密切相关的灵长类动物有效地捕获关键的比较信息.
- 通过与更遥远的相关物种进行比较而遗漏的功能元素的识别.
结论:
- 内原体序列比较对于发现人类基因组中的功能元素非常有效.
- 这种方法成功地识别了保存的哺乳动物和灵长类动物特有的基因组特征.
- 灵长类动物中的比较基因组学提供了独特的见解,无法通过与更为不同的物种进行比较来实现.
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