Comparative analyses of multi-species sequences from targeted genomic regions
Comparative analyses of multi-species sequences from targeted genomic regions
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DOI：
10.1038/nature01858
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发表时间：
2003-08-14
期刊：
影响因子：
64.8
通讯作者：
Green, ED
中科院分区：
文献类型：
--
作者：
Thomas, JW;Touchman, JW;Green, ED
来自不同生物体的基因组序列的系统比较代表了当代基因组分析的中心焦点。脊椎动物序列的比较分析可以识别编码区（1-6）和保守的非编码区（4,6,7），包括调控元件（8-10），并提供对现代基因组形成的力量的洞察(6)。作为全基因组测序工作的补充（3,5,6），我们正在对多个进化上不同的脊椎动物的目标基因组区域进行测序和比较。在这里，我们报告了来自12个物种的超过12兆碱基（Mb）序列的生成和分析，所有这些序列都来自人类7号染色体上约1.8 Mb的基因组区域，其中包含10个基因，包括囊性纤维化突变的基因。这些序列表现出保守性，反映了功能限制和中性突变事件，形成了这个基因组区域。特别是，我们发现了大量的保守的非编码片段，而不是以前通过实验发现的那些，其中大多数不能通过单独的成对序列比较检测到。转座因子插入的分析强调了这些物种之间基因组动力学的差异，并证实了啮齿动物作为灵长类动物的姐妹群的位置。
The systematic comparison of genomic sequences from different organisms represents a central focus of contemporary genome analysis. Comparative analyses of vertebrate sequences can identify coding(1-6) and conserved non-coding(4,6,7) regions, including regulatory elements(8-10), and provide insight into the forces that have rendered modern-day genomes(6). As a complement to whole-genome sequencing efforts(3,5, 6), we are sequencing and comparing targeted genomic regions in multiple, evolutionarily diverse vertebrates. Here we report the generation and analysis of over 12 megabases (Mb) of sequence from 12 species, all derived from the genomic region orthologous to a segment of about 1.8 Mb on human chromosome 7 containing ten genes, including the gene mutated in cystic fibrosis. These sequences show conservation reflecting both functional constraints and the neutral mutational events that shaped this genomic region. In particular, we identify substantial numbers of conserved non- coding segments beyond those previously identified experimentally, most of which are not detectable by pair-wise sequence comparisons alone. Analysis of transposable element insertions highlights the variation in genome dynamics among these species and confirms the placement of rodents as a sister group to the primates.