Further understanding human disease genes by comparing with housekeeping genes and other genes.
Further understanding human disease genes by comparing with housekeeping genes and other genes.
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DOI：
10.1186/1471-2164-7-31
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发表时间：
2006-02-21
期刊：
影响因子：
4.4
通讯作者：
Sun F
中科院分区：
文献类型：
--
作者：
Tu Z;Wang L;Xu M;Zhou X;Chen T;Sun F
几项研究已经将可遗传疾病基因的各种特征与其他所谓的非疾病基因进行了比较，但他们得出了一些相互矛盾的结果。这些研究中的一个潜在问题是，非疾病基因包含大量必需基因--这些基因对人类的生存和繁殖是不可或缺的。由于必需基因的功能中断会造成致命的后果，因此更合理的做法是将必需基因视为极其严重的“疾病”基因。在这里，我们对人类必需基因、疾病基因和其他基因的特征进行了比较研究。在缺乏一组明确定义的人类基本基因的情况下，我们考虑一组1789个普遍表达的人类基因(UEHGs)，也称为管家基因，作为一个近似值。我们证明UEHG很可能包含很大比例的必需基因。我们发现UEHGs、疾病基因和其他基因在进化保守率、DNA编码长度、基因功能等方面存在差异。我们的发现系统地证实了疾病基因具有一种中等重要性，它小于看家基因，但大于其他人类基因。人类基因组可能包含数以千计的基本基因，这些基因具有与疾病和其他基因显著不同的特征。我们建议将它们归类为比较疾病基因和非疾病基因的一个独特的组。这种新的分类和比较方式使我们对疾病基因有了更清晰的了解。
Several studies have compared various features of heritable disease genes with other so called non-disease genes, but they have yielded some conflicting results. A potential problem in those studies is that the non-disease genes contained a large number of essential genes – genes which are indispensable for humans to survive and reproduce. Since a functional disruption of an essential gene has fatal consequences, it's more reasonable to regard essential genes as extremely severe "disease" genes. Here we perform a comparative study on the features of human essential, disease, and other genes. In the absence of a set of well defined human essential genes, we consider a set of 1,789 ubiquitously expressed human genes (UEHGs), also known as housekeeping genes, as an approximation. We demonstrate that UEHGs are very likely to contain a large proportion of essential genes. We show that the UEHGs, disease genes and other genes are different in their evolutionary conservation rates, DNA coding lengths, gene functions, etc. Our findings systematically confirm that disease genes have an intermediate essentiality which is less than housekeeping genes but greater than other human genes. The human genome may contain thousands of essential genes having features which differ significantly from disease and other genes. We propose to classify them as a unique group for comparisons of disease genes with non-disease genes. This new way of classification and comparison enables us to have a clearer understanding of disease genes.
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影响因子：
14.9
作者：
López-Bigas, N;Ouzounis, CA
通讯作者：
Ouzounis, CA
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