1st Place

 

David Yang

Bergen County Academies

Teacher: Judith Pinto

 

 

Alternative splicing plays a fundamental role in the neuronal gene expression. The complexity and sophistication of the human brain requires a meticulous control system, and the proteomic diversity made possible by AS contributes to the regulation. Most interestingly, the human brainís remarkable memory storage system is partially controlled by alternative splicing. . .

. . . Many complex human processes utilize alternative splicing, but errors in this mechanism can play a significant role in human diseases. Notably, spinal muscular atrophy (SMA) is caused by the absence of the SMN protein, which is involved in snRNP assembly that is involved in the splicing process. . .


. . . Though disruption in alternative splicing can lead to diseases, AS can also aid fighting against pathogens, and plays a vital role in the immune system. Within the T-cell receptor CD3 complex, the zeta unit plays an important role in the cell signaling pathway through antigen recognition, which leads to T-cell activation. This CD3 zeta unit is in fact regulated via AS.