Work

Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment

Year: 2026

Type: article

Abstract: Understanding the divergence in neurodevelopment between extinct archaic hominins and modern humans is a central goal in evolutionary biology. Structural variants (SVs) are key genomic drivers of phenotypic change. Here, we identified a set of SVs present in archaic humans by screening fixed SV events from diverse non-human primate (NHP) lineages, termed archaic hominin structural variants (AHSVs). AHSVs are significantly enriched in genes governing brain development and function, many of which are implicated in neuropsychiatric disorders. We found that several AHSVs overlap with brain cis -regulatory elements (CREs). Furthermore, in three neural-related genes ( PDE10A , RAPGEF4 , and DCTN4 ), modern human-specific chromatin loop anchors coincide with deletions shared by archaic hominins, suggesting that AHSVs may have influenced three-dimensional chromatin architecture. Overall, this study expands our understanding of the adaptive evolution of the modern human brain.

Source: iScience

DOI: 10.1016/j.isci.2026.117741

Authors: Shiyu Zha, Cheng Li, Chao Zhang

Institutions: Peking University, Kunming Institute of Zoology, Chinese Academy of Sciences

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,240