Frazer K A, Sheehan J B, Stokowski R P, Chen X, Hosseini R, Cheng J F, Fodor S P, Cox D R, Patil N
Perlegen Sciences, Santa Clara, California 95051, USA.
Genome Res. 2001 Oct;11(10):1651-9. doi: 10.1101/gr.198201.
Comparison of human sequences with the DNA of other mammals is an excellent means of identifying functional elements in the human genome. Here we describe the utility of high-density oligonucleotide arrays as a rapid approach for comparing human sequences with the DNA of multiple species whose sequences are not presently available. High-density arrays representing approximately 22.5 Mb of nonrepetitive human chromosome 21 sequence were synthesized and then hybridized with mouse and dog DNA to identify sequences conserved between humans and mice (human-mouse elements) and between humans and dogs (human-dog elements). Our data show that sequence comparison of multiple species provides a powerful empiric method for identifying actively conserved elements in the human genome. A large fraction of these evolutionarily conserved elements are present in regions on chromosome 21 that do not encode known genes.
将人类序列与其他哺乳动物的DNA进行比较是识别人类基因组中功能元件的一种极佳方法。在此,我们描述了高密度寡核苷酸阵列作为一种快速方法的实用性,该方法可用于将人类序列与目前尚无序列信息的多个物种的DNA进行比较。合成了代表人类21号非重复染色体上约22.5 Mb序列的高密度阵列,然后与小鼠和狗的DNA杂交,以鉴定人类与小鼠之间(人鼠元件)以及人类与狗之间(人狗元件)保守的序列。我们的数据表明,多个物种的序列比较为识别人类基因组中活跃保守的元件提供了一种强大的经验方法。这些进化保守元件中的很大一部分存在于21号染色体上不编码已知基因的区域。