Wang Jing, Chen Zixi, He Fei, Lee Trevor, Cai Wenjie, Chen Wanhua, Miao Nan, Zeng Zhiwei, Hussain Ghulam, Yang Qingwei, Guo Qiwei, Sun Tao
Center for Precision Medicine, School of Medicine and School of Biomedical Sciences, Huaqiao University, Xiamen, China.
College of Materials Science and Engineering, Huaqiao University, Xiamen, China.
Front Cell Dev Biol. 2022 Mar 22;10:825345. doi: 10.3389/fcell.2022.825345. eCollection 2022.
Trisomy 18, commonly known as Edwards syndrome, is the second most common autosomal trisomy among live born neonates. Multiple tissues including cardiac, abdominal, and nervous systems are affected by an extra chromosome 18. To delineate the complexity of anomalies of trisomy 18, we analyzed cultured amniotic fluid cells from two euploid and three trisomy 18 samples using single-cell transcriptomics. We identified 6 cell groups, which function in development of major tissues such as kidney, vasculature and smooth muscle, and display significant alterations in gene expression as detected by single-cell RNA-sequencing. Moreover, we demonstrated significant gene expression changes in previously proposed trisomy 18 critical regions, and identified three new regions such as 18p11.32, 18q11 and 18q21.32, which are likely associated with trisomy 18 phenotypes. Our results indicate complexity of trisomy 18 at the gene expression level and reveal genetic reasoning of diverse phenotypes in trisomy 18 patients.
18三体综合征，通常称为爱德华兹综合征，是活产新生儿中第二常见的常染色体三体疾病。包括心脏、腹部和神经系统在内的多个组织会受到额外的18号染色体的影响。为了描述18三体综合征异常情况的复杂性，我们使用单细胞转录组学分析了来自两个正常二倍体样本和三个18三体综合征样本的羊水培养细胞。我们识别出了6个细胞群，它们在肾脏、血管和平滑肌等主要组织的发育中发挥作用，并且通过单细胞RNA测序检测到其基因表达有显著变化。此外，我们证明了先前提出的18三体综合征关键区域存在显著的基因表达变化，并识别出三个新区域，即18p11.32、18q11和18q21.32，它们可能与18三体综合征的表型相关。我们的结果表明了18三体综合征在基因表达水平上的复杂性，并揭示了18三体综合征患者多种表型的遗传原因。
