RNA editing sites in coding sequences of ABO blood group alleles

The ABO blood group gene, a protein-coding gene on chromosome 9, is essential for identifying a person's blood group phenotype. A, B, and O are the three primary alleles of the gene. The ABO blood grouping system is crucial for organ transplantation and blood transfusion because it helps to avoid potentially fatal unfavorable immunological reactions. This study looks into the codon structuring pattern, Codon Usage Bias (CUB) as well as RNA alteration sites in the ABO blood group alleles of Homo sapiens.

The ABO blood group gene has high GC content and low CUB, which both point to significant variation in synonymous codon use. It was discovered that 18 codons were underrepresented and 13 codons were overrepresented in ABO gene. The research indicates that the evolution of ABO blood group genes is shaped by two primary factors: mutational force as well as natural selection, which plays a more substantial role (53.20%) compared to mutational force (46.80%). Transition sites were more than transversion sites. RNA editing sites analysis identified the greatest substitution of C by T nucleotides in ABO alleles.

Overall, the discoveries broaden our understanding of codon utilization mechanisms and the RNA alteration sites in human ABO blood group alleles.