Sep 2026· Journal of Molecular Evolution· 0 citations· 80 references
Medicine
TL;DR
This review synthesizes current knowledge on the role of conserved noncoding elements, human accelerated regions (HARs), and transposable element (TE)-derived sequences in shaping gene regulatory networks (GRNs) underlying brain development to provide a comprehensive framework for understanding the molecular basis of primate brain evolution through the lens of gene regulation.
Regulatory variation is widely recognized as a driver of evolution within and between species, including in the primate lineage. Evidence for potentially adaptive regulatory evolution in primates comes from both sequence-based tests for selection and cross-species comparisons of gene expression. However, comparative st...
Arun Durvasula, Amy Longtin, Audrey M. Arner et al.· bioRxiv· 0 citations
Through multiplex, single-cell enhancer assays, HAQERs are identified as active enhancers in the developing brain and cardiomyocytes, and their potential contributions to human-specific gene regulation across multiple tissues are highlighted.
Yan-Ting Luo, Riley J. Mangan, S. Weaver et al.· Cell Genomics· 0 citations
Understanding gene regulation in the brain is essential for defining the genetic basis of neurologic disease. Cis-regulatory elements (CREs) regulate gene expression, but their function and evolution depend on sequence and cis- and trans-regulatory context. We generated single-nucleus RNA- and ATAC-seq data from cortex...
Ashlyn G. Anderson, B. Rogers, Erin A. Barinaga et al.· Cell Genomics· 0 citations
A coordinated evolutionary remodelling of the human skeletal ECM is revealed, including a marked suppression of glycosaminoglycan biosynthesis, leading to an approximately three-to-fourfold reduction in joint GAG content in humans compared with non-human apes.
Yi-Zhi Yan, Nadav Mishol, Katharina Lange et al.· Nature· 1 citation
Deciphering the regulatory consequences of sequence divergence across human evolution is essential to understanding the molecular basis of human-specific traits and disease. Although millions of derived alleles distinguish humans from great apes, only a small fraction are likely to influence human-specific traits. Prev...
Riley J. Mangan, Nikitha Thoduguli, Dimitar Ivanov et al.· bioRxiv· 0 citations
Mammalian brains exhibit extensive diversity in size, cellular composition, and organization, yet the molecular evolutionary changes associated with this phenotypic diversification remain incompletely understood. Here, we investigated whether protein-sequence evolution covaries with quantitative differences in brain ph...
A. Solovyov, M. Kazanskii, Alibek Suraganov et al.· bioRxiv· 0 citations
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