title: Transcriptional consequence and impaired gametogenesis with high-grade aneuploidy in Arabidopsis thaliana.
abstract: Aneuploidy features a numerical chromosome variant that the number of chromosomes in the nucleus of a cell is not an exact multiple of the haploid number, which may have an impact on morphology and gene expression. Here we report a tertiary trisomy uncovered by characterizing a T-DNA insertion mutant (aur2-1/+) in the Arabidopsis (Arabidopsis thaliana) AURORA2 locus. Whole-genome analysis with DNA tiling arrays revealed a chromosomal translocation linked to the aur2-1 allele, which collectively accounted for a tertiary trisomy 2. Morphologic, cytogenetic and genetic analyses of aur2-1 progeny showed impaired male and female gametogenesis to various degrees and a tight association of the aur2-1 allele with the tertiary trisomy that was preferentially inherited. Transcriptome analysis showed overlapping and distinct gene expression profiles between primary and tertiary trisomy 2 plants, particularly genes involved in response to stress and various types of external and internal stimuli. Additionally, transcriptome and gene ontology analyses revealed an overrepresentation of nuclear-encoded organelle-related genes functionally involved in plastids, mitochondria and peroxisomes that were differentially expressed in at least three if not all Arabidopsis trisomics. These observations support a previous hypothesis that aneuploid cells have higher energy requirement to overcome the detrimental effects of an unbalanced genome. Moreover, our findings extend the knowledge of the complex nature of the T-DNA insertion event influencing plant genomic integrity by creating high-grade trisomy. Finally, gene expression profiling results provide useful information for future research to compare primary and tertiary trisomics for the effects of aneuploidy on plant cell physiology.
authors.affiliation: Institute of Plant and Microbial Biology, Academia Sinica, Taipei, Taiwan.
authors.forename: Kuan-Lin
authors.initials: KL
authors.lastname: Lo
authors.affiliation: Biotechnology Center, National Chung-Hsing University, Taichung, Taiwan.
authors.forename: Long-Chi
authors.initials: LC
authors.lastname: Wang
authors.affiliation: Institute of Plant and Microbial Biology, Academia Sinica, Taipei, Taiwan.
authors.forename: I-Ju
authors.initials: IJ
authors.lastname: Chen
authors.affiliation: Institute of Plant and Microbial Biology, Academia Sinica, Taipei, Taiwan.
authors.forename: Yu-Chen
authors.initials: YC
authors.lastname: Liu
authors.affiliation: Institute of Plant and Microbial Biology, Academia Sinica, Taipei, Taiwan.
authors.forename: Mei-Chu
authors.initials: MC
authors.lastname: Chung
authors.affiliation: Institute of Plant and Microbial Biology, Academia Sinica, Taipei, Taiwan.
authors.forename: Wan-Sheng
authors.initials: WS
authors.lastname: Lo
mesh_terms: D017360:Arabidopsis / Q000235:genetics* / Q000502:physiology; D064096:Aurora Kinase A / Q000235:genetics; D017931:DNA Primers; D004734:Energy Metabolism / Q000235:genetics; D056130:Gametogenesis, Plant / Q000235:genetics* / Q000502:physiology; D020869:Gene Expression Profiling; D018506:Gene Expression Regulation, Plant / Q000235:genetics*; D008857:Microscopy, Interference; D016254:Mutagenesis, Insertional / Q000235:genetics; D011058:Pollen / Q000166:cytology / Q000502:physiology; D014314:Trisomy
chemical_list: D017931:DNA Primers; D064096:Aurora Kinase A