Turner syndrome (TS) is a rare genetic disease, leading to the higher sensitivity of autoimmune diseases. However, the changes of gene expression and chromatin conformation in TS remains unknown, especially in B cells. In this study, we performed single cell RNA sequencing on a total of 36076 cells from 2 families with TS patients and a single TS patient. We also performed Hi-C experiment on naive and IgD- B cells from one of the families. Our findings demonstrated that TS patients (45XO) have similar composition and ratio of the subtypes among B cells as their parents with the normal chromosome number (46XX and 46XY). We also discovered that genes specifically expressed in the B cells of TS patients are all in the autosomes. Meanwhile, there's no significant alteration on the TAD of X chromosomes in TS patients. Further analysis demonstrated that phenotypic changes of TS patients are probably caused by chromatin remodeling between genes and elements in the autosomes. These results suggested that genes in X chromosome function normally in TS patients due to dose compensation effect. This study shows some basic molecular phenomena of TS, providing a theoretical basis for further exploring the mechanism of TS.

Turner syndrome, X chromosome inactivation, single cell transcriptome, B cell