Human functional genetic studies are biased against the medically most relevant primate-specific genes

BMC Evolutionary Biology

Research Article

Martin J Lercher¹  Jun Yu²  Haolei Wan²  Xiaomeng Ge²  Songnian Hu²  Lili Hao³  Wei-Hua Chen⁴ 

[1] Bioinformatics group, Heinrich-Heine University Düsseldorf, 40225, Germany;CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, 100029, Beijing, China;CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, 100029, Beijing, China;Graduate University of Chinese Academy of Sciences, 100049, Beijing, China;European Molecular Biology Laboratory (EMBL), Meyerhofstrasse 1, 69117, Heidelberg, Germany;

关键词: Young Gene;    Expression Breadth;    Pathway Annotation;    Genetic Information Processing;    Environmental Information Processing;   

DOI  :  10.1186/1471-2148-10-316

 received in 2010-07-02, accepted in 2010-10-20,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundMany 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.ResultsGene 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.ConclusionsOur 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.

【 授权许可】

Unknown   
© Hao et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.