Mapping <i>cis</i>- and <i>trans</i>-regulatory target genes of human-specific deletions.

ABSTRACT: Deletion of functional sequence is predicted to represent a fundamental mechanism of molecular evolution^1,2. Comparative genetic studies of primates^2,3 have identified thousands of human-specific deletions (hDels), and the cis-regulatory potential of short (≤31 base pairs) hDels has been assessed using reporter assays⁴. However, how structural variant-sized (≥50 base pairs) hDels influence molecular and cellular processes in their native genomic contexts remains unexplored. Here, we design genome-scale libraries of single-guide RNAs targeting 7.2 megabases of sequence in 6,358 hDels and present a systematic CRISPR interference (CRISPRi) screening approach to identify hDels that modify cellular proliferation in chimpanzee pluripotent stem cells. By in

SUBMITTER: Fair T 

PROVIDER: S-EPMC10793408 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature