Gene expression profile at single cell level of wildtype and BubR1 knockout embryonic E10.5 hearts

Congenital heart defects (CHDs) are the most common type of congenital defects in humans and have consequences across the lifespan. Mutations in BubR1 cause mosaic variegated aneuploidy (MVA) syndrome in which patients develop CHDs such as atrial and ventricular septal defects. We observed that cardiac-specific BubR1 deletion causes embryonic lethality due to defects at the structural and cellular defects. We conducted single cell RNA sequencing (ScRNA-seq) to determine the defects that occur in the absence of BubR1 at the molecular level in the developing myocardium. Hearts were isolated from E10.5 wildtype and BubR1 knockout embryos followed by digestion to make single cell suspensions. The samples were then processed according to 10x genomics pipeline for library preparation and sequencing.