Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.

Partial reduction of CFIm25 protein levels leads to misregulated alternative polyadenylation in neurons and learning deficits.

The elongation rate of RNA polymerase II broadly affects the profile of poly(A) sites, and hence 3' mRNA isoforms, and it can mediate alternative polyadenylation in response to environmental conditions.

The 3'-end formation complex CFIm regulates S-adenosylmethionine (SAM) homeostasis by promoting the splicing of the SAM synthetase transcript, MAT2A.

Genetics and biochemical analyses reveal an evolutionarily conserved mechanism to regulate gene isoform expression by mTORC1 and implicate possible gene isoform imbalance in cancer and neurological disorders with mTORC1 pathway dysregulation.