Diverse Molecular Mechanisms Contribute to Differential Expression of Human Duplicated Genes.

ABSTRACT: Emerging evidence links genes within human-specific segmental duplications (HSDs) to traits and diseases unique to our species. Strikingly, despite being nearly identical by sequence (>98.5%), paralogous HSD genes are differentially expressed across human cell and tissue types, though the underlying mechanisms have not been examined. We compared cross-tissue mRNA levels of 75 HSD genes from 30 families between humans and chimpanzees and found expression patterns consistent with relaxed selection on or neofunctionalization of derived paralogs. In general, ancestral paralogs exhibited greatest expression conservation with chimpanzee orthologs, though exceptions suggest certain derived paralogs may retain or supplant ancestral functions. Concordantly, analysis of long-read isoform sequencing

SUBMITTER: Shew CJ 

PROVIDER: S-EPMC8321529 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature