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 …

Genome-wide analyses of introgression between two sympatric Asian oak species

R Fu, Y Zhu, Y Liu, Y Feng, RS Lu, Y Li, P Li… - Nature Ecology & …, 2022 - nature.com
Introgression can be an important source of new alleles for adaption under rapidly changing
environments, perhaps even more important than standing variation. Though introgression …

Multiple causal variants underlie genetic associations in humans

NS Abell, MK DeGorter, MJ Gloudemans, E Greenwald… - Science, 2022 - science.org
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …

Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific cis-regulatory elements

AG Anderson, BB Rogers, JM Loupe… - Cell Genomics, 2023 - cell.com
Cell type-specific transcriptional differences between brain tissues from donors with
Alzheimer's disease (AD) and unaffected controls have been well documented, but few …

More than a decade of genetic research on the Denisovans

S Peyrégne, V Slon, J Kelso - Nature Reviews Genetics, 2024 - nature.com
Denisovans, a group of now extinct humans who lived in Eastern Eurasia in the Middle and
Late Pleistocene, were first identified from DNA sequences just over a decade ago. Only ten …

[HTML][HTML] Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types

V Agarwal, F Inoue, M Schubach, BK Martin, PM Dash… - BioRxiv, 2023 - ncbi.nlm.nih.gov
The human genome contains millions of candidate cis-regulatory elements (CREs) with cell-
type-specific activities that shape both health and myriad disease states. However, we lack a …

[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 …

Detection of Neanderthal adaptively introgressed genetic variants that modulate reporter gene expression in human immune cells

E Jagoda, JR Xue, SK Reilly… - Molecular Biology …, 2022 - academic.oup.com
Although some variation introgressed from Neanderthals has undergone selective sweeps,
little is known about its functional significance. We used a Massively Parallel Reporter Assay …

[HTML][HTML] Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex

C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and disease. Using massively parallel reporter assays in primary human cells …