问题：人类第17号染色体测序工作已告完成
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版块：生物化学(zb3,zb1,)
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时间：2006-04-27 17:13:34 编辑加入/取消收藏订制/取消短消息举报该贴

Nature 440, 1045-1049 (20 April 2006) | doi:10.1038/nature04689; Received 9 February 2006; ; Accepted 1 March 2006

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.

人类第17号染色体测序及人类血统重组的分析

第17号染色体在很多方面与别的人类染色体不同。它在人类常染色体中是最大的，但orthology片段却只相当于一只小鼠的11号染色体末端的一半。第17号染色体富含蛋白质编码基因，在基因组中有第二高的基因密度。它同样富于分段复制区域，在常染色体中排第三。本文中，我们报道了人类第17号染色体测序工作的完成，同时将之与老鼠第11号染色体做了结构上的比较。二者在orthologous区域存在显著的差异。通过与哺乳动物的进化中典型模式（pattern）的对比，在染色体内的水平上，人类基因序列产生过广泛的重组。相比之下，老鼠的基因序列非常稳定。此外，人类基因序列含有高密度的分段复制区域, 而老鼠的序列中只含有相当低密度的分段复制区域. 显然，这些分段复制区域与结构充足的位点有很大的相关性，证明了复制和重组之间有某种联系。通过对分段复制区域的主要部分的检测，可以提供某种变化的证据，而这种证据可以解释物种染色体的扩展以及为何在人类基因组中少有重复片段。

注：orthology指起源于不同物种的最近的共同祖先的一些基因。具体可参看生物物理学报vol.20 No.2 Apr.2004:137的介绍。初次翻译且是不同领域的工作难免有偏差，还请各位看官多多原谅。

特别声明：本文仅供参考学习，原文摘要仍归NATURE所有。不想在本人的学术生涯里留下污点。翻译部分为本人及一位好友共同完成，如无允许，请勿转载。

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