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Analysis of inter-chromosomal distribution of disease-related genes in human genome.
Current Protein & Peptide Science ( IF 1.9 ) Pub Date : 2020-04-26 , DOI: 10.2174/1389203721666200426233158
Xiaochao Sun 1 , Bin Yang 2 , Qunye Zhang 3
Affiliation  

Many studies have shown that the spatial distribution of genes within a single chromosome exhibits distinct patterns. However, little is known about the characteristics of inter-chromosomal distribution of genes (including protein-coding genes, processed transcripts and pseudogenes) in different genomes. In this study, we explored these issues using the available genomic data of both human and model organisms. Moreover, we also analyzed the distribution pattern of protein-coding genes that have been associated with 14 common diseases and the insert/deletion mutations and single nucleotide polymorphisms detected by whole genome sequencing in an acute promyelocyte leukemia patient. We obtained the following novel findings. Firstly, inter-chromosomal distribution of genes displays a non-stochastic pattern and the gene densities in different chromosomes are heterogeneous. This kind of heterogeneity is observed in genomes of both lower and higher species. Secondly, protein-coding genes involved in certain biological processes tend to be enriched in one or a few chromosomes. Our findings have added new insights into our understanding of the spatial distribution of genome and disease-related genes across chromosomes. These results could be useful in improving the efficiency of disease-associated gene screening studies by targeting specific chromosomes.

中文翻译:

人类基因组中疾病相关基因的染色体间分布分析。

许多研究表明,单个染色体内基因的空间分布表现出不同的模式。然而,人们对不同基因组中基因(包括蛋白质编码基因,加工的转录本和假基因)的染色体间分布特征了解甚少。在这项研究中,我们使用人类和模型生物的可用基因组数据探索了这些问题。此外,我们还分析了与14种常见疾病相关的蛋白质编码基因的分布模式,以及在急性早幼粒细胞白血病患者中通过全基因组测序检测到的插入/缺失突变和单核苷酸多态性。我们获得了以下新颖的发现。首先,基因的染色体间分布显示出非随机模式,并且不同染色体中的基因密度是异质的。在较低和较高物种的基因组中均观察到这种异质性。其次,某些生物学过程中涉及的蛋白质编码基因倾向于富集一个或几个染色体。我们的发现为我们对跨染色体的基因组和疾病相关基因的空间分布的理解增加了新的见解。这些结果可通过靶向特定染色体来提高疾病相关基因筛选研究的效率。我们的发现为我们对跨染色体的基因组和疾病相关基因的空间分布的理解增加了新的见解。这些结果可能通过靶向特定染色体来提高疾病相关基因筛选研究的效率。我们的发现为我们对跨染色体的基因组和疾病相关基因的空间分布的理解增加了新的见解。这些结果可能通过靶向特定染色体来提高疾病相关基因筛选研究的效率。
更新日期:2020-04-26
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