4.6 Review Book Chapter

Cellular and Molecular Mechanisms Linking Human Cortical Development and Evolution

Journal

ANNUAL REVIEW OF GENETICS, VOL 55
Volume 55, Issue -, Pages 555-581

Publisher

ANNUAL REVIEWS
DOI: 10.1146/annurev-genet-071719-020705

Keywords

human brain evolution; cerebral cortex development; heterochrony; hominid-specific gene; neurogenesis; neoteny

Funding

  1. European Research Council (ERC) Advanced Grant (GENDEVOCORTEX)
  2. Fondation ROGER DE SPOELBERCH
  3. Generet Fund
  4. Fondation JED
  5. EOS Programme
  6. Belgian Queen Elizabeth Medical Foundation
  7. Belgian Flemish Research Council (FWO)
  8. Fund for Scientific Research (FRS-FNRS)
  9. AXA Research Fund
  10. Fondation ULB
  11. European Research Council (ERC) Advanced Grant (NEUROTEMPO)

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The human cerebral cortex has unique developmental features, including prolonged patterns of neuronal generation and maturation, specific gene regulatory networks, and newly emerged molecular characteristics. These features are closely related to neurodevelopmental disorders, highlighting the connections between human neural development, evolution, and diseases.
The cerebral cortex is at the core of brain functions that are thought to be particularly developed in the human species. Human cortex specificities stem from divergent features of corticogenesis, leading to increased cortical size and complexity. Underlying cellularmechanisms include prolonged patterns of neuronal generation and maturation, as well as the amplification of specific types of stem/progenitor cells. While the gene regulatory networks of corticogenesis appear to be largely conserved among all mammals including humans, they have evolved in primates, particularly in the human species, through the emergence of rapidly divergent transcriptional regulatory elements, as well as recently duplicated novel genes. These human-specific molecular features together control key cellular milestones of human corticogenesis and are often affected in neurodevelopmental disorders, thus linking human neural development, evolution, and diseases.

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