Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
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. When HARs were discovered in 2006, their function was mysterious due to scant …
Genome-wide analyses of introgression between two sympatric Asian oak species
Introgression can be an important source of new alleles for adaption under rapidly changing
environments, perhaps even more important than standing variation. Though introgression …
environments, perhaps even more important than standing variation. Though introgression …
Multiple causal variants underlie genetic associations in humans
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 …
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 …
Alzheimer's disease (AD) and unaffected controls have been well documented, but few …
More than a decade of genetic research on the Denisovans
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 …
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
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 …
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 …
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
Although some variation introgressed from Neanderthals has undergone selective sweeps,
little is known about its functional significance. We used a Massively Parallel Reporter Assay …
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
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and disease. Using massively parallel reporter assays in primary human cells …
development and disease. Using massively parallel reporter assays in primary human cells …