Fig. 6

Searching for the cause of the presence of a single allele of the NT5C3A gene in the transcriptome. Luciferase reporter assays. A Variants present in studied family members located in 3′-UTR of the NT5C3A gene identified using the Sanger method. B Post-transcriptional activity of the 3′-UTR regions of the human RBC’s specific nucleotidase isoform (cN-IIIA-R) and three different mutation variants tested by transfecting HEK293T cells with the constructs or with control plasmid did not show any significant differences for the phenotype. Constructs used to analysis: human 3′ untranslated region (UTR) of the wild type of the NT5C3A gene [WT-HmiT067108-MT06; cN-IIIA-R; transcript variant 4 (NM_001166118.3)] and three different mutation variants (M1 with substitution T/C, M2 insertion TCTT and M3 with both, substitution T/C and insertion TCTT) of firefly luciferase reporter constructs (HmiT018551-MT06-01/02/03, respectively) were purchased from GeneCopoeia (Rockville, MD, USA)