The partial/complete loss of one X chromosome in a human female leads to Turner syndrome (TS). TS individuals display a range of phenotypes including short stature, osteoporosis, ovarian malfunction, diabetes, and thyroid dysfunction. Epigenetic factors and regulatory networks are distinctly different in X monosomy (45, X). In a lifetime, an individual is exposed to a variety of stress conditions. To study whether X monosomy cells display a differential response upon exposure to mild stress as compared to normal 46, XX cells and whether this may contribute to various co-morbidities in aneuploid individuals, we have carried out a transcriptomic analysis of human fibroblasts 45, X and 46, XX after exposure to mild oxidative stress. Under these conditions, over 350 transcripts were seen to be differentially expressed in 45, X and 46, XX cells. Pathways associated with oxidative stress were differentially expressed highlighting the differential regulation of genes and associated phenotypes. It could be seen that X monosomy cells are more susceptible to oxidative stress as compared to normal cells and have altered molecular pathways both in normal conditions and also upon exposure to mild oxidative stress. To explore this aspect in detail, we have mapped the expressions of transcription factors (TFs) in 45, X and 46, XX cells. The network of transcription activating factors is differentially regulated in 45, X and 46, XX cells under stress exposure. It is tempting to speculate that the altered ability of 45, X (Turner) cells to respond to stress may play a significant role in the physiological function and altered phenotypes in Turner syndrome.

人类女性中一条 X 染色体的部分/完全缺失导致特纳综合征 (TS)。TS 个体表现出一系列表型，包括身材矮小、骨质疏松症、卵巢功能障碍、糖尿病和甲状腺功能障碍。X 单体的表观遗传因素和调控网络明显不同 (45, X)。在一生中，一个人会暴露在各种压力条件下。为了研究与正常 46、XX 细胞相比，X 单体细胞在暴露于轻度应激时是否表现出不同的反应，以及这是否可能导致非整倍体个体的各种合并症，我们对人类成纤维细胞 45、X 进行了转录组学分析和 46, XX 暴露于轻度氧化应激后。在这些条件下，超过 350 个转录本在 45、X 和 46、XX 细胞中差异表达。与氧化应激相关的途径差异表达，突出了基因和相关表型的差异调节。可以看出，与正常细胞相比，X 单体细胞更容易受到氧化应激的影响，并且在正常条件下以及在暴露于轻度氧化应激时都具有改变的分子途径。为了详细探索这方面，我们绘制了 45、X 和 46、XX 细胞中转录因子 (TF) 的表达图。转录激活因子网络在压力暴露下的 45、X 和 46、XX 细胞中受到不同的调节。很容易推测 45，X（特纳）细胞对压力的反应能力的改变可能在特纳综合征的生理功能和改变的表型中起重要作用。