Sequence interpretation - Functional annotation of mouse genome sequences
Sequence interpretation - Functional annotation of mouse genome sequences
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DOI：
10.1126/science.1058244
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发表时间：
2001-02-16
期刊：
影响因子：
56.9
通讯作者：
Zimmer, A
中科院分区：
文献类型：
--
作者：
Nadeau, JH;Balling, R;Zimmer, A
随着人类基因组DNA序列的报道和小鼠基因组测序的进展，人类基因组计划的第一阶段已经完成（1-3）。对这些DNA序列的分析将揭示用于构建这些生物体的基因清单，以及构成将遗传“部件列表”转化为生物体形式和功能的“指导手册”的许多调节元件。现在研究的重点开始从基因结构和基因组组织问题转向蛋白质功能和相互作用、发育和生理途径以及系统生物学问题。各种计算方法被用来推断基因的功能。对流感嗜血杆菌、幽门螺杆菌、秀丽隐杆线虫和黑腹果蝇等物种以及人类基因组序列的分析说明了这些方法的力量（1,2）。然而，生物学功能的许多基本方面并不直接体现在DNA序列中。发现一个几乎无法推断出功能信息的基因序列并不罕见。例如，序列分析无法预测人类基因组中多达30%的基因的功能，而其余大多数基因的推断功能尚未得到证实（1,2）。由于人类和老鼠之间惊人的序列相似性(1)，对一个物种的发现会对另一个物种产生强有力的推论。
With the reports of the DNA sequence of the human genome and progress in sequencing the mouse genome, the first phase of the Human Genome Project is complete (1–3)). Analysis of these DNA sequences will reveal the inventory of genes used for building these organisms, as well as many regulatory elements that compose the “instruction manual” for converting the genetic “parts list” into organismal form and function. Research attention is now beginning to shift from problems of gene structure and genome organization to questions of protein function and interactions, developmental and physiological pathways, and systems biology.Various computational methods are being used to deduce functions for genes. Analyses of the genome sequences of species such as Haemophilus influenzae, Helicobacter pylori, Caenorhabditis elegans, and Drosophila melanogaster, and humans illustrate the power of these methods (1, 2). However, many fundamental aspects of biological functions are not directly evident in DNA sequences. It is not unusual to discover a gene sequence about which little functional information can be deduced. For example, sequence analysis leads to no prediction of function for as many as 30% of the genes in the human genome, and the inferred functions of most of the remaining genes have yet to be proven (1, 2). Because of the striking sequence similarities between humans and mice (1), discoveries in one species lead to strong inferences in the other.