Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Enhancer function and evolutionary roles of human accelerated regions

S Whalen, KS Pollard - Annual review of genetics, 2022 - annualreviews.org
Human accelerated regions (HARs) are the fastest-evolving sequences in the human
genome. When HARs were discovered in 2006, their function was mysterious due to scant …

[HTML][HTML] Genetic architecture of human brain evolution

T Fair, AA Pollen - Current Opinion in Neurobiology, 2023 - Elsevier
Comparative studies of hominids have long sought to identify mutational events that shaped
the evolution of the human nervous system. However, functional genetic differences are …

Resolving the three-dimensional interactome of Human Accelerated Regions during human and chimpanzee neurodevelopment

A Pal, MA Noble, M Morales, R Pal, M Baumgartner… - Cell, 2024 - cell.com
Human accelerated regions (HARs) have been implicated in human brain evolution.
However, insight into the genes and pathways they control is lacking, hindering the …

Comparative landscape of genetic dependencies in human and chimpanzee stem cells

R She, T Fair, NK Schaefer, RA Saunders, BJ Pavlovic… - Cell, 2023 - cell.com
Comparative studies of great apes provide a window into our evolutionary past, but the
extent and identity of cellular differences that emerged during hominin evolution remain …

Evolutionary innovations in conserved regulatory elements associate with developmental genes in mammals

S Uebbing, AA Kocher, M Baumgartner… - Molecular Biology …, 2024 - academic.oup.com
Transcriptional enhancers orchestrate cell type-and time point-specific gene expression
programs. Genetic variation within enhancer sequences is an important contributor to …

Machine learning dissection of human accelerated regions in primate neurodevelopment

S Whalen, F Inoue, H Ryu, T Fair… - Neuron, 2023 - cell.com
Using machine learning (ML), we interrogated the function of all human-chimpanzee
variants in 2,645 human accelerated regions (HARs), finding 43% of HARs have variants …

Extended gene set analysis of human neuro-psychiatric traits shows enrichment in brain-expressed human accelerated regions across development

JP Cheung, JD Tubbs, PC Sham - Schizophrenia Research, 2022 - Elsevier
Human neuropsychiatric disorders are associated with genetic and environmental factors
affecting the brain, which has been subjected to strong evolutionary pressures resulting in …

GC-biased gene conversion drives accelerated evolution of ultraconserved elements in mammalian and avian genomes

A Liu, N Wang, G Xie, Y Li, X Yan, X Li, Z Zhu… - Genome …, 2023 - genome.cshlp.org
Ultraconserved elements (UCEs) are the most conserved regions among the genomes of
evolutionarily distant species and are thought to play critical biological functions. However …

[HTML][HTML] Massively parallel disruption of enhancers active in human neural stem cells

E Geller, MA Noble, M Morales, J Gockley, D Emera… - Cell reports, 2024 - cell.com
Changes in gene regulation have been linked to the expansion of the human cerebral cortex
and to neurodevelopmental disorders, potentially by altering neural progenitor proliferation …