Human functional genetic studies are biased against the medically most relevant primate-specific genes.
Human functional genetic studies are biased against the medically most relevant primate-specific genes.
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DOI：
10.1186/1471-2148-10-316
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发表时间：
2010-10-20
影响因子：
3.4
通讯作者：
Chen WH
中科院分区：
文献类型：
--
作者：
Hao L;Ge X;Wan H;Hu S;Lercher MJ;Yu J;Chen WH
人类基因的许多功能、结构和进化特征已被观察到与表达宽度和/或基因年龄相关。在这里，我们系统地探索这些相关性。基因年龄和表达宽度是密切相关的，但独立的功能，结构和进化特征的变化，即使我们考虑到mRNA表达水平的变化。在远缘物种中没有直系同源物的人类基因（“年轻”基因）在表达上往往是组织特异性的。由于基因功能的计算推断通常依赖于其他物种中同源物的存在，并且实验表征由广泛和高表达促进，因此年轻的组织特异性人类基因通常是最少表征的。与此同时，年轻的基因最有可能与医学相关。我们的研究结果表明，人类基因的功能特征是对年轻的，组织特异性的基因，主要是医学相关的偏见。这些偏见不应掉以轻心，因为它们可能对我们理解人类疾病的分子基础构成严重障碍。因此，未来的研究应该专门探索灵长类动物特异性基因的特性。
Many functional, structural and evolutionary features of human genes have been observed to correlate with expression breadth and/or gene age. Here, we systematically explore these correlations. Gene age and expression breadth are strongly correlated, but contribute independently to the variation of functional, structural and evolutionary features, even when we take account of variation in mRNA expression level. Human genes without orthologs in distant species ('young' genes) tend to be tissue-specific in their expression. As computational inference of gene function often relies on the existence of homologs in other species, and experimental characterization is facilitated by broad and high expression, young, tissue-specific human genes are often the least characterized. At the same time, young genes are most likely to be medically relevant. Our results indicate that functional characterization of human genes is biased against young, tissue-specific genes that are mostly medically relevant. The biases should not be taken lightly because they may pose serious obstacles to our understanding of the molecular basis of human diseases. Future studies should thus be designed to specifically explore the properties of primate-specific genes.
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影响因子：
12.3
作者：
Freilich S;Massingham T;Bhattacharyya S;Ponsting H;Lyons PA;Freeman TC;Thornton JM
通讯作者：
Thornton JM
影响因子：
30.8
作者：
Pál, C;Papp, B;Lercher, MJ
通讯作者：
Lercher, MJ
UCSC基因组浏览器数据库：更新2010。
影响因子：
14.9
作者：
Rhead B;Karolchik D;Kuhn RM;Hinrichs AS;Zweig AS;Fujita PA;Diekhans M;Smith KE;Rosenbloom KR;Raney BJ;Pohl A;Pheasant M;Meyer LR;Learned K;Hsu F;Hillman-Jackson J;Harte RA;Giardine B;Dreszer TR;Clawson H;Barber GP;Haussler D;Kent WJ
通讯作者：
Kent WJ
影响因子：
14.9
作者：
Barrett T;Troup DB;Wilhite SE;Ledoux P;Rudnev D;Evangelista C;Kim IF;Soboleva A;Tomashevsky M;Marshall KA;Phillippy KH;Sherman PM;Muertter RN;Edgar R
通讯作者：
Edgar R
影响因子：
10.7
作者：
Domazet-Loso T;Tautz D
通讯作者：
Tautz D