Alternative Transcripts Diversify Genome Function for Phenome Relevance to Health and Diseases.

ABSTRACT: Manipulation using alternative exon splicing (AES), alternative transcription start (ATS), and alternative polyadenylation (APA) sites are key to transcript diversity underlying health and disease. All three are pervasive in organisms, present in at least 50% of human protein-coding genes. In fact, ATS and APA site use has the highest impact on protein identity, with their ability to alter which first and last exons are utilized as well as impacting stability and translation efficiency. These RNA variants have been shown to be highly specific, both in tissue type and stage, with demonstrated importance to cell proliferation, differentiation and the transition from fetal to adult cells. While alternative exon splicing has a limited effect on protein identity, its ubiquity highlights the imp

SUBMITTER: Carrion SA 

PROVIDER: S-EPMC10671453 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature