DNA sequence and analysis of human chromosome 8
DNA sequence and analysis of human chromosome 8
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DOI：
10.1038/nature04406
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发表时间：
2006-01-19
期刊：
影响因子：
64.8
通讯作者：
Lander, ES
中科院分区：
文献类型：
--
作者：
Nusbaum, C;Mikkelsen, TS;Lander, ES
国际人类基因组测序联盟（IHGSC）最近完成了人类基因组的测序（1）。作为这个项目的一部分，我们专注于8号染色体。虽然一些染色体在长度、基因含量、重复序列含量和片段重复分数方面表现出极端的特征，但8号染色体在特征上是明显典型的，在这些方面都非常接近基因组中值。这项工作描述了染色体的完整序列和基因目录，该染色体仅占常染色体人类基因组的5%以上。该染色体的一个独特特征是在远端8 p上有一个类似于15兆碱基的巨大区域，似乎具有惊人的高突变率，相对于其他测序的哺乳动物，原始人类的突变率有所加快。这个快速进化的区域包含许多与先天免疫和神经系统相关的基因，包括似乎处于正选择下的基因座（2）-其中包括主要防御素（DEF）基因簇（3，4）和MCPH 1（5，6），一个可能有助于类人猿大脑尺寸扩大的进化的基因。来自8号染色体的数据应该可以更好地理解正常和疾病生物学以及基因组进化。
The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome(1). As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of similar to 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection(2)-these include the major defensin (DEF) gene cluster(3,4) and MCPH1(5,6), a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.