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人类遗传疾病:人与酵母之间的相互作用

Human genetic diseases: a cross-talk between man and yeast.

作者信息

Foury F

机构信息

Unité de Biochimie Physiologique, Université Catholique de Louvain, Louvain-la-Neuve, Belgium.

出版信息

Gene. 1997 Aug 11;195(1):1-10. doi: 10.1016/s0378-1119(97)00140-6.

DOI:10.1016/s0378-1119(97)00140-6
PMID:9300813
Abstract

A sequence similarity search has been carried out against the complete Saccharomyces cerevisiae genome to identify the yeast homologues of human disease-associated genes. Using the BLAST algorithm (Basic Local Alignment Search Tool), it was found that 52 out of the 170 disease genes identified without reference to chromosomal map position and 22 of the 80 (27.5%) positionally cloned genes match yeast genes with a P-value of <e(-40). The percentage of the disease genes identified by positional cloning which bear homology to yeast is similar to that of a random collection of human cDNAs. The biochemical and physiological functions of the large majority of these human genes remain poorly understood and, even though a strict conservation of function cannot safely be assessed from structural homology analysis without the support of experimental and three-dimensional data, functional analogies can often be established between the human and yeast genes.

摘要

针对完整的酿酒酵母基因组进行了序列相似性搜索,以鉴定与人类疾病相关基因的酵母同源物。使用BLAST算法(基本局部比对搜索工具),发现在未参考染色体图谱位置而鉴定出的170个疾病基因中,有52个以及在80个(27.5%)通过定位克隆得到的基因中有22个与酵母基因匹配,P值<e(-40)。通过定位克隆鉴定出的与酵母具有同源性的疾病基因的百分比,与随机收集的人类cDNA的百分比相似。这些人类基因中的绝大多数的生化和生理功能仍知之甚少,并且,尽管在没有实验和三维数据支持的情况下,无法从结构同源性分析安全地评估功能的严格保守性,但通常可以在人类和酵母基因之间建立功能类比。

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