Dunham I, Shimizu N, Roe B A, Chissoe S, Hunt A R, Collins J E, Bruskiewich R, Beare D M, Clamp M, Smink L J, Ainscough R, Almeida J P, Babbage A, Bagguley C, Bailey J, Barlow K, Bates K N, Beasley O, Bird C P, Blakey S, Bridgeman A M, Buck D, Burgess J, Burrill W D, O'Brien K P
Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Nature. 1999 Dec 2;402(6761):489-95. doi: 10.1038/990031.
Knowledge of the complete genomic DNA sequence of an organism allows a systematic approach to defining its genetic components. The genomic sequence provides access to the complete structures of all genes, including those without known function, their control elements, and, by inference, the proteins they encode, as well as all other biologically important sequences. Furthermore, the sequence is a rich and permanent source of information for the design of further biological studies of the organism and for the study of evolution through cross-species sequence comparison. The power of this approach has been amply demonstrated by the determination of the sequences of a number of microbial and model organisms. The next step is to obtain the complete sequence of the entire human genome. Here we report the sequence of the euchromatic part of human chromosome 22. The sequence obtained consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
了解生物体完整的基因组DNA序列,有助于采用系统的方法来确定其遗传成分。基因组序列能让人了解所有基因的完整结构,包括那些功能未知的基因、它们的调控元件,通过推断还能了解它们所编码的蛋白质,以及所有其他具有生物学重要性的序列。此外,该序列还是丰富且永久的信息来源,可用于设计对该生物体的进一步生物学研究,以及通过跨物种序列比较来研究进化。通过测定多种微生物和模式生物的序列,这种方法的强大威力已得到充分证明。下一步是获取整个人类基因组的完整序列。在此,我们报告人类22号染色体常染色质部分的序列。所获得的序列由12个连续片段组成,跨度为3340万个碱基对,包含至少545个基因和134个假基因,并首次展示了基因组其余部分将会发现的复杂染色体景观。