An international research team has uncovered a new mechanism crucial to the production of cellular proteins. When this mechanism is disrupted, the blueprints used by the cell to produce proteins are inaccurately edited through a process called splicing. The study, led by Goethe University Frankfurt, sheds light on how specific mutations may lead to the retinal disease retinitis pigmentosa.
Importantly, these findings could also open the door to new diagnostic tests and treatments for a range of other diseases, including certain cancers, Parkinson’s, and Alzheimer’s. Genes contain the essential building instructions for life, guiding cells on which amino acids to assemble in what sequence to produce specific proteins. The human genome codes for about 20,000 such instructions.
"Nevertheless, our cells can produce several hundred thousand different proteins," explains Prof. Ivan Đikić from the Institute of Biochemistry II at Goethe University Frankfurt. This diversity is enabled by a process known as "splicing.
" When a cell requires a protein, it generates a copy of the relevant instructions in the cell nucleus. During splicing, this transcript undergoes modification: a cellular editing complex, the spliceosome, removes certain segments. The outcome varies depending on which parts are cut out, resulting in distinct blueprints for different proteins.
Splicing accuracy enhanced This process is crucial for the life of the cell. "The spliceosome is composed of multiple compon.