The GC-content at the 5' ends of human protein-coding genes is undergoing mutational decay.

ABSTRACT:

Background

In vertebrates, most protein-coding genes have a peak of GC-content near their 5' transcriptional start site (TSS). This feature promotes both the efficient nuclear export and translation of mRNAs. Despite the importance of GC-content for RNA metabolism, its general features, origin, and maintenance remain mysterious. We investigate the evolutionary forces shaping GC-content at the transcriptional start site (TSS) of genes through both comparative genomic analysis of nucleotide substitution rates between different species and by examining human de novo mutations.

Results

Our data suggests that GC-peaks at TSSs were present in the last common ancestor of amniotes, and likely that of vertebrates. We observe that in apes and rodents, where recombination is directed a

SUBMITTER: Qiu Y 

PROVIDER: S-EPMC11323403 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature