Sequence analysis of the human genome - Implications for the understanding of nervous system function and disease
Sequence analysis of the human genome - Implications for the understanding of nervous system function and disease
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DOI：
10.1001/archneur.58.11.1772
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发表时间：
2001-11-01
影响因子：
--
通讯作者：
Venter, JC
中科院分区：
文献类型：
--
作者：
Cravchik, A;Subramanian, G;Venter, JC
最近公布的人类基因组序列将加速发现人类疾病的新的遗传易感因素，导致新的诊断和治疗方法的发展。对人类基因组序列的详尽分析将是未来许多年生物医学研究界关注的焦点。特别是，对现有的真核生物基因组序列进行比较分析是加深我们对基因结构、功能和进化的理解的重要途径。我们对人类基因组序列的初步分析揭示了许多与神经系统功能、进化和疾病相关的有趣特征。我们分析了预测的人类参与神经功能的蛋白质的显著特征，并准备了对146个人类基因的比较分析，这些基因具有导致168种神经疾病易感性的等位基因(或突变)。
The recent publication of the sequence of the human genome will accelerate the discovery of new genetic susceptibility factors for human disease, leading to the development of novel diagnostics and therapeutics. The exhaustive analysis of the human genome sequence will be the focus of the biomedical research community for many years to come. In particular, comparative analysis of the available eukaryotic genome sequences is an important approach to further our understanding of gene structure, function, and evolution. Our initial analysis of the human genome sequence has revealed many interesting features that are relevant to nervous system function, evolution, and disease. We analyzed the prominent features of predicted human proteins involved in neuronal function and prepared a comparative analysis of 146 human genes that have alleles (or mutations) conferring susceptibility for 168 neurologic diseases.