TORONTO: A team of researchers in Canada has uncovered new layers of complexity in the human genetic code and protein formation.
Led by Dr Arshad Rafiq, a faculty member of Pakistani origin at Algoma University, the research was co-authored by student researcher Maahil Arshad—also of Pakistani background—alongside international collaborators Matthew Uchmanowicz and Vanshika Rana.
Their paper, titled Mapping the Inter- and Intra-genic Codon Usage Landscape in Homo sapiens, was recently published on the global preprint platform bioRxiv.
Dr Rafiq explained that the research centres on “codon usage bias”—subtle patterns in how genetic instructions are encoded, which have remained largely unexplored in humans. The findings reveal that these biases play a crucial role in regulating how proteins are constructed, folded, and maintained, potentially reshaping our scientific understanding of genetic information.
The study also highlights that codon usage bias is markedly stronger in the structured regions of proteins compared to more flexible areas. Moreover, genes exhibiting strong codon bias tend to resist so-called “silent mutations”, suggesting deep evolutionary constraints.
Experts believe these insights could have significant implications for medical research, particularly in understanding genetic diseases and developing new treatments.
Funded by Algoma University, the study lays a strong foundation for future advances in functional genomics and the interpretation of genetic mutations increasingly linked to human health.
