Hughes Kimberly A, Ayroles Julien F, Reedy Melissa M, Drnevich Jenny M, Rowe Kevin C, Ruedi Elizabeth A, Cáceres Carla E, Paige Ken N
School of Integraive Biology, University of Illinois, Urbana, Illinois 61801, USA.
Genetics. 2006 Jul;173(3):1347-55. doi: 10.1534/genetics.105.051474. Epub 2006 Apr 19.
Properties of genes underlying variation in complex traits are largely unknown, especially for variation that segregates within populations. Here, we evaluate allelic effects, cis and trans regulation, and dominance patterns of transcripts that are genetically variable in a natural population of Drosophila melanogaster. Our results indicate that genetic variation due to the third chromosome causes mainly additive and nearly additive effects on gene expression, that cis and trans effects on gene expression are numerically about equal, and that cis effects account for more genetic variation than do trans effects. We also evaluated patterns of variation in different functional categories and determined that genes involved in metabolic processes are overrepresented among variable transcripts, but those involved in development, transcription regulation, and signal transduction are underrepresented. However, transcripts for proteins known to be involved in protein-protein interactions are proportionally represented among variable transcripts.
复杂性状变异背后的基因特性在很大程度上尚不清楚，尤其是在群体内分离的变异。在这里，我们评估了黑腹果蝇自然群体中基因可变的转录本的等位基因效应、顺式和反式调控以及显性模式。我们的结果表明，第三条染色体引起的遗传变异主要对基因表达产生加性和近乎加性的效应，基因表达的顺式和反式效应在数值上大致相等，并且顺式效应比反式效应占更多的遗传变异。我们还评估了不同功能类别的变异模式，并确定参与代谢过程的基因在可变转录本中占比过高，但参与发育、转录调控和信号转导的基因占比过低。然而，已知参与蛋白质-蛋白质相互作用的蛋白质的转录本在可变转录本中按比例呈现。
