The role of alternative mRNA splicing in chromosome instability

Abstract

Chromosomal instability (CIN) involves the gain or loss of complete or partial chromosomes during cellular division, and it is a common characteristic of tumors that have aneuploidy. In addition, CIN is considered to be a closely related event to carcinogenesis. The mechanisms that lead to CIN include defects in the cohesion of sister chromatids, mitotic spindle checkpoint, and regulation of the number of centrosomes. Different studies have found that transcription variants, also known as isoforms, which are generated by the alternative splicing of exons and introns in mRNA that encodes many of the regulator proteins of chromosomal segregation, have an important role in mechanisms that lead to CIN. The majority of these isoforms are newly described. The discovery of additional isoforms and the study of their mechanisms of action allow a more integrated view of how cells regulate the segregation of their genetic material, and of how errors occur in chromosomal segregation.