Panel a features three line graphs
representing RNA sequencing reads within the SAMHD1 locus from different
samples: a healthy donor, the maternal sample, and the proband. The x-axis
of each graph shows the exon numbers from 1 to 16, while the y-axis
represents the read counts. The healthy donor and maternal samples show
complete reads throughout the SAMHD1 locus, whereas the proband sample shows
a loss of reads 3 prime of exon 4. Panel b consists of three scatter plots
comparing the relative expression of SAMHD1 exons 2-3, exons 4-5, and exons
6-7 to ACTB, measured by qPCR. The x-axis labels the different exon groups,
and the y-axis shows the relative expression levels. Each plot includes data
points for the proband, paternal, maternal, and healthy donor samples. The
proband shows significantly lower expression levels for exons 4-5 and no
detected expression for exons 6-7, while the other samples exhibit higher
and more consistent expression levels.
3′ exons of SAMHD1 are not transcribed in cells from the proband. (a) Graphical representation of reads within the SAMHD1 locus from RNA-seq performed on PBMCs from healthy donors, the mother, or the proband, showing a complete loss of reads 3′ of exon 4 in the proband (bottom track). (b) Relative expression of SAMHD1 exons 2–3, exons 4–5, or exons 6–7 compared to ACTB as measured by qPCR using exon-specific primers on RNA isolated from PBMCs from the patient, both parents, or healthy donor controls (GROI, gene region of interest; ND, not detected).