Alternative proteins encoded by the same gene have widely divergent functions

A recent study co-authored by Frederick Roth, Canada Excellence Research Chair in Integrative Biology at the University of Toronto, has demonstrated the complexity of species with fewer-than-expected genes, highlighting the need to study all related protein forms for their potential roles in disease pathology.

A single human gene can produce many different proteins. In the first large-scale study of its kind, a study published in Cell showed that most of these sibling proteins encoded by the same gene—known as protein isoforms—often play radically different roles within tissues and cells. The findings may have a significant effect on the understanding of human biology and influence future research in many fields.

For example, the study may help explain how 20,000 protein-coding genes in the human genome—fewer than found in the genome of a grape—can give rise to creatures of such enormous complexity. This diversity in protein function suggests that each protein isoform should be studied individually to understand its normal role and its potential involvement in disease.

Similarly, research into cancer-related proteins often focuses on the most prevalent isoforms in a given cell, tissue or organ. Since less-prevalent protein isoforms may also contribute to disease, and may prove to be valuable targets for drug therapy, their role should also be examined.

Further information may be found on the University of California, San Diego School of Medicine website.