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 …

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 …

A history of multiple Denisovan introgression events in modern humans

L Ongaro, E Huerta-Sanchez - Nature Genetics, 2024 - nature.com
The identification of a new hominin group in the Altai mountains called Denisovans was one
of the most exciting discoveries in human evolution in the last decade. Unlike Neanderthal …

Evolutionary immuno-genetics of endoplasmic reticulum aminopeptidase II (ERAP2)

A Raja, JJW Kuiper - Genes & Immunity, 2023 - nature.com
Abstract Endoplasmic reticulum aminopeptidase 2 (ERAP2) is a proteolytic enzyme involved
in adaptive immunity. The ERAP2 gene is highly polymorphic and encodes haplotypes that …

Inferring human phenotypes using ancient DNA: from molecules to populations

M Ferrando-Bernal, CM Brand, JA Capra - Current Opinion in Genetics & …, 2025 - Elsevier
The increasing availability of ancient DNA (aDNA) from human groups across space and
time has yielded deep insights into the movements of our species. However, given the …

Sequence-based machine learning reveals 3D genome differences between bonobos and chimpanzees

CM Brand, S Kuang, EN Gilbertson… - Genome Biology and …, 2024 - academic.oup.com
The 3D structure of the genome is an important mediator of gene expression. As phenotypic
divergence is largely driven by gene regulatory variation, comparing genome 3D contacts …

[HTML][HTML] A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs

WJ Venema, S Hiddingh, J van Loosdregt, J Bowes… - Cell genomics, 2024 - cell.com
Single-nucleotide polymorphisms (SNPs) near the ERAP2 gene are associated with various
autoimmune conditions, as well as protection against lethal infections. Due to high linkage …

Archaic introgression shaped human circadian traits

K Velazquez-Arcelay, LL Colbran… - Genome Biology and …, 2023 - academic.oup.com
When the ancestors of modern Eurasians migrated out of Africa and interbred with Eurasian
archaic hominins, namely, Neanderthals and Denisovans, DNA of archaic ancestry …

[HTML][HTML] Sequence-based machine learning reveals 3D genome differences between bonobos and chimpanzees

CM Brand, S Kuang, EN Gilbertson, E McArthur… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Phenotypic divergence between closely related species, including bonobos and
chimpanzees (genus Pan), is largely driven by variation in gene regulation. The 3D structure …

Neanderthal Introgression Shaped Human Circadian Traits.

K Velazquez-Arcelay, LL Colbran… - Biorxiv: the Preprint …, 2023 - europepmc.org
Results Here we traced the evolution of chronotype based on genomes from archaic
hominin and present-day humans. First, we inferred differences in circadian gene …