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.