Olduvai domain expression downregulates mitochondrial pathways: implications for human brain evolution and neoteny.

ABSTRACT: Encoded by the NBPF gene family, Olduvai (formerly DUF1220) protein domains have undergone the largest human lineage-specific copy number expansion of any coding region in the genome. Olduvai copy number shows a linear relationship with several brain size-related measures and cortical neuron number among primates and with normal and disease-associated (micro- and macrocephaly) variation in brain size in human populations. While Olduvai domains have been shown to promote proliferation of neural stem cells, the mechanism underlying such effects has remained unclear. Here, we investigate the function of Olduvai by transcriptome and proteome analyses of cells overexpressing NBPF1, a gene encoding 7 Olduvai domains. Our results from both RNAseq and mass spectrometry approaches suggest a

SUBMITTER: Keeney JG 

PROVIDER: S-EPMC11526873 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature