A genome-wide survey of human pseudogenes
A genome-wide survey of human pseudogenes
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DOI：
10.1101/gr.1455503
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发表时间：
2003-12-01
期刊：
影响因子：
7
通讯作者：
Bork, P
中科院分区：
文献类型：
--
作者：
Torrents, D;Suyama, M;Bork, P
我们筛选了人类基因组中的所有基因间区域，通过同源性搜索和使用沉默与替换核苷酸取代比率（K-A/K-S）的功能性测试相结合来识别假基因。我们鉴定了19，724个区域，其中95% +/- 3%估计是中性进化的，因此可能编码假基因。其中一半在其伪编码区没有可检测的截短，因此无法通过需要存在截短以证明非功能性的方法进行鉴定。与小鼠基因组的比较分析表明，这些假基因中有70%具有反转录转座起源（加工），其余的由片段复制产生（未加工）。虽然这两种类型的假基因的传播与染色体的大小，未加工的假基因似乎是丰富的高基因密度的区域。很可能，这里确定的人类假基因只占总数的一小部分，这可能超过了基因的数量。
We screened all intergenic regions in the human genome to identify pseudogenes with a combination of homology searches and a functionality test using the ratio of silent to replacement nucleotide substitutions (K-A/K-S). We identified 19,724 regions of which 95% +/- 3% are estimated to evolve neutrally and thus are likely to encode pseudogenes. Half of these have no detectable truncation in their pseudocoding regions and therefore are not identifiable by methods that require the presence of truncations to prove nonfunctionality. A comparative analysis with the mouse genome showed that 70% of these pseudogenes have a retrotranspositional origin (processed), and the rest arose by segmental duplication (nonprocessed). Although the spread of both types of pseudogenes correlates with chromosome size, nonprocessed pseudogenes appear to be enriched in regions with high gene density. It is likely that the human pseudogenes; identified here represent only a small fraction of the total, which probably exceeds the number of genes.