Functional bias and spatial organization of genes in mutational hot and cold regions in the human genome.
Functional bias and spatial organization of genes in mutational hot and cold regions in the human genome.
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DOI：
10.1371/journal.pbio.0020029
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发表时间：
2004-02
期刊：
影响因子：
9.8
通讯作者：
Li H
中科院分区：
文献类型：
--
作者：
Chuang JH;Li H
已知中性突变率沿沿着人类染色体变化很大，导致突变的热区和冷区。我们提供的证据表明，类别的功能相关的基因优先驻留在突变的热或冷的区域，我们已经测量的大小。热区域的基因偏向于细胞外通讯（表面受体、细胞粘附、免疫反应等），而寒冷地区的人则偏向于基本的细胞过程（基因调节，RNA加工，蛋白质修饰等）。从选择的角度来看，这种基因组织可以最大限度地减少需要保守的基因的突变负荷，并允许必须经常适应的基因快速进化。我们还分析了基因重复和染色体重组的影响，这对某些类别的热基因的这些偏见有显着贡献。总的来说，我们的研究结果表明，基因的位置是非随机的相对于热和冷的区域，提供了选择的作用在人类基因组中的基因位置的水平上的可能性。功能相关的基因往往出现在基因组中突变率高或低的区域，这意味着自然选择也可以在基因定位的水平上起作用
The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally related genes reside preferentially in mutationally hot or cold regions, the size of which we have measured. Genes in hot regions are biased toward extracellular communication (surface receptors, cell adhesion, immune response, etc.), while those in cold regions are biased toward essential cellular processes (gene regulation, RNA processing, protein modification, etc.). From a selective perspective, this organization of genes could minimize the mutational load on genes that need to be conserved and allow fast evolution for genes that must frequently adapt. We also analyze the effect of gene duplication and chromosomal recombination, which contribute significantly to these biases for certain categories of hot genes. Overall, our results show that genes are located nonrandomly with respect to hot and cold regions, offering the possibility that selection acts at the level of gene location in the human genome. Functionally related genes tend to be found in regions of the genome with high or low mutation rates, which implies that natural selection can also operate at the level of gene location
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