Influence of <i>cis</i>-regulatory elements on expression divergence in human segmental duplications.

ABSTRACT: Human-specific segmental duplications (HSDs) contain millions of base pairs of sequence unique to the human genome, including genes that shape neurodevelopment. Despite their young age (<6 million years), HSD genes exhibit widespread regulatory divergence, with paralog-specific expression patterns documented across a variety of tissues and cell types. Using long-read expression and epigenomic data, we show that human-specific paralogs tend to have lower activity than the shared, ancestral ones. To systematically characterize the cis-regulatory elements (CREs) within HSDs and understand patterns of regulatory change in recently evolved gene families, we conducted a massively parallel reporter assay of 7,160 human duplicated and chimpanzee orthologous sequences in lymphoblastoid (GM12

SUBMITTER: Shew CJ 

PROVIDER: S-EPMC12642434 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature