Bioinformatical assay of human gene morbidity
Bioinformatical assay of human gene morbidity
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DOI：
10.1093/nar/gkh330
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发表时间：
2004-03-01
影响因子：
14.9
通讯作者：
Kondrashov, AS
中科院分区：
文献类型：
--
作者：
Kondrashov, FA;Ogurtsov, AY;Kondrashov, AS
只有一小部分真核基因会极大地影响表型。我们比较了已知的1273个人类致病基因中的18个参数，以及其余16580个明确的人类基因中的18个参数。病态基因进化较慢，具有更广泛的系统发育分布，与果蝇的必需基因更相似，编码含有更多丙氨酸和甘氨酸而较少组氨酸、赖氨酸和蛋氨酸的较长蛋白质，拥有更多具有更准确剪接信号的更长内含子，并有更高和更广泛的表达。当只有5%的已知病态基因被错误地归类为非病态基因时，这些差异使得有可能将发病率未知的34%的人类基因归类为非病态基因。这种分类有助于在多个候选基因中识别致病基因。
Only a fraction of eukaryotic genes affect the phenotype drastically. We compared 18 parameters in 1273 human morbid genes, known to cause diseases, and in the remaining 16 580 unambiguous human genes. Morbid genes evolve more slowly, have wider phylogenetic distributions, are more similar to essential genes of Drosophila melanogaster, code for longer proteins containing more alanine and glycine and less histidine, lysine and methionine, possess larger numbers of longer introns with more accurate splicing signals and have higher and broader expressions. These differences make it possible to classify as non-morbid 34% of human genes with unknown morbidity, when only 5% of known morbid genes are incorrectly classified as non-morbid. This classification can help to identify disease-causing genes among multiple candidates.