An isochore map of human chromosomes

An isochore map of human chromosomes
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DOI:
10.1101/gr.4910606
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发表时间:
2006-04-01
期刊:
影响因子:
7
通讯作者:
Bernardi, G
Bernardi, G
中科院分区:
生物学1区
文献类型:
--
作者:
Costantini, M;Clay, O;Bernardi, G

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等位基因是大的DNA片段(平均>> 300 kb),其特征在于GC的内部变异远低于哺乳动物基因组中观察到的全部变异。然而,精确地定义人类染色体的大小和组成以及绘制人类染色体上的等着丝点图仍然是很大程度上未解决的问题。在这里,我们使用了一种非常简单的方法来重新分割人类染色体,基于对GC及其相邻区域内和相邻区域之间的变化的评估。我们通过类似于3200个等粒线获得了人类基因组的完全覆盖(忽略剩余的缺口),这可以被视为最终的染色体带。明显属于五个家庭,其特征在于不同的GC水平,从以前的调查预期。由于我们之前已经表明等容线与基因密度、复制时间和重组等基本生物学特性紧密相关,因此等容线图提供的新的细节水平将有助于理解基因组结构、功能和进化。
Isochores are large DNA segments (>> 300 kb on average) that are characterized by an internal variation in GC well below the full variation seen in the mammalian genome. Precisely defining in terms of size and composition as well as mapping the isochores on human chromosomes have, however, remained largely unsolved problems. Here we used a very simple approach to segment the human chromosomes de novo, based on assessments of GC and its variation within and between adjacent regions. We obtain a complete coverage of the human genome (neglecting the remaining gaps) by similar to 3200 isochores, which may be visualized as the ultimate chromosomal bands. Isochores visibly belong to five families characterized by different GC levels, as expected from previous investigations. Since we previously showed that isochores are tightly linked to basic biological properties such as gene density, replication timing, and recombination, the new level of detail provided by the isochore map will help the understanding of genome structure, function, and evolution.