RT Journal Article SR Electronic T1 Single cell RNA sequencing reveals cellular diversity of trisomy 21 retina JF bioRxiv FD Cold Spring Harbor Laboratory SP 614149 DO 10.1101/614149 A1 Jihong Wu A1 Xiangning Ding A1 Fangyuan Hu A1 Zaoxu Xu A1 Shenghai Zhang A1 Langchao Liang A1 Chaochao Chai A1 Jixing Zhong A1 Shiyou Wang A1 Xiumei Lin A1 Yin Chen A1 Qikai Feng A1 Jiacheng Zhu A1 Sanjie Jiang A1 Jun Xia A1 Wei Li A1 Ya Gao A1 Jiankang Li A1 Jingxuan Zhang A1 Zhikai He A1 Shen Xue A1 Guanglin Guo A1 Ping Xu A1 Fengjuan Gao A1 Dandan Wang A1 Daowei Zhang A1 Dongsheng Chen A1 Xinghuai Sun A1 Fang Chen YR 2019 UL http://biorxiv.org/content/early/2019/04/21/614149.abstract AB Retina is a crucial tissue for the capturing and processing of light stimulus. Characterization of the retina at single cell level is essential for the understanding of its biological functions. A variety of abnormalities in terms of morphology and function were reported in T21 retina. To evaluate the effects of chromosome aneuploidy on retina development, we characterized single cell transcriptional profiles of a T21 fetus and performed comprehensive bioinformatic analyses. Our data revealed the diversity and heterogeneity of cellular compositions in T21 retina. In total, we identified seven major cell types, and detected several subtypes within each cell type, followed by the detection of corresponding molecular markers including previously reported ones and a series of novel markers. Our analyses identified extensive communication networks between distinct cellular types, among which a few ligand-receptor interactions were associated with the development of retina and immunoregulatory interactions. Taken together, our data provided the first single cell transcriptome profile for human T21 retina which facilitates our understanding on the dosage effects of chromosome 21 on the development of retina.