Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome.

ABSTRACT:

Background

Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies. The research of trisomy 18 is progressing slowly, and the molecular characteristics of the disease mechanism and phenotype are still largely unclear.

Results

In this study, we used the commercial Chromium platform (10× Genomics) to perform sc-ATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells derived from one trisomy 18 syndrome patient and one healthy donor. We obtained 13 distinct major clusters of cells and identified them as 6 human umbilical cord blood mononuclear cell types using analysis too

SUBMITTER: Qiu X 

PROVIDER: S-EPMC8246660 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature