Origins and Evolution of Human Tandem Duplicated Exon Substitution Events.

ABSTRACT: The mutually exclusive splicing of tandem duplicated exons produces protein isoforms that are identical save for a homologous region that allows for the fine tuning of protein function. Tandem duplicated exon substitution events are rare, yet highly important alternative splicing events. Most events are ancient, their isoforms are highly expressed, and they have significantly more pathogenic mutations than other splice events. Here, we analyzed the physicochemical properties and functional roles of the homologous polypeptide regions produced by the 236 tandem duplicated exon substitutions annotated in the human gene set. We find that the most important structural and functional residues in these homologous regions are maintained, and that most changes are conservative rather than drastic.

SUBMITTER: Martinez-Gomez L 

PROVIDER: S-EPMC9741552 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature