Division of Biological Sciences, University of Missouri, Columbia, MO 65211-7400.
Proc Natl Acad Sci U S A. 2013 Oct 8;110(41):16514-9. doi: 10.1073/pnas.1316041110. Epub 2013 Sep 23.
Global analysis of gene expression via RNA sequencing was conducted for trisomics for the left arm of chromosome 2 (2L) and compared with the normal genotype. The predominant response of genes on 2L was dosage compensation in that similar expression occurred in the trisomic compared with the diploid control. However, the male and female trisomic/normal expression ratio distributions for 2L genes differed in that females also showed a strong peak of genes with increased expression and males showed a peak of reduced expression relative to the opposite sex. For genes in other autosomal regions, the predominant response to trisomy was reduced expression to the inverse of the altered chromosomal dosage (2/3), but a minor peak of increased expression in females and further reduced expression in males were also found, illustrating a sexual dimorphism for the response to aneuploidy. Moreover, genes with sex-biased expression as revealed by comparing amounts in normal males and females showed responses of greater magnitude to trisomy 2L, suggesting that the genes involved in dosage-sensitive aneuploid effects also influence sex-biased expression. Each autosomal chromosome arm responded to 2L trisomy similarly, but the ratio distributions for X-linked genes were distinct in both sexes, illustrating an X chromosome-specific response to aneuploidy.
通过 RNA 测序对 2L 染色体三体进行了全局基因表达分析,并与正常基因型进行了比较。2L 上基因的主要反应是剂量补偿,即三体与二倍体对照相比,表达相似。然而,2L 基因的雌雄三体/正常表达比分布不同,因为雌性还表现出大量表达增加的基因峰,而雄性则表现出相对于异性表达降低的基因峰。对于其他常染色体区域的基因,对三体的主要反应是表达降低到改变的染色体剂量的三分之二(2/3),但也发现雌性中存在少量表达增加的峰,而雄性中进一步降低表达,表明对非整倍体的反应存在性别二态性。此外,通过比较正常雄性和雌性的数量揭示的具有性别偏向表达的基因对 2L 三体的反应幅度更大,表明参与剂量敏感的非整倍体效应的基因也影响性别偏向表达。每个常染色体臂对 2L 三体的反应相似,但 X 连锁基因的比值分布在两性中是不同的,表明 X 染色体对非整倍体有特异性反应。