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Related Concept Videos

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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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Neurulation01:30

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Updated: Oct 19, 2025

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM
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Cellular and Molecular Mechanisms Linking Human Cortical Development and Evolution.

Baptiste Libé-Philippot1,2, Pierre Vanderhaeghen1,2

  • 1VIB-KU Leuven Center for Brain & Disease Research, KU Leuven Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium;

Annual Review of Genetics
|September 18, 2021
PubMed
Summary

Human brain evolution expanded the cerebral cortex through unique developmental processes. These involve extended neural generation and gene regulation changes, impacting human cognition and neurodevelopmental disorders.

Keywords:
cerebral cortex developmentheterochronyhominid-specific genehuman brain evolutionneotenyneurogenesis

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Human Evolution

Background:

  • The human cerebral cortex underpins complex cognitive functions, with its expansion distinguishing human evolution.
  • Corticogenesis, the development of the cerebral cortex, involves intricate cellular and molecular mechanisms.
  • Understanding human-specific cortical development is crucial for insights into cognition and neurological disorders.

Purpose of the Study:

  • To elucidate the molecular and cellular mechanisms driving human cerebral cortex expansion.
  • To identify evolutionary changes in gene regulatory networks during primate corticogenesis.
  • To link human-specific developmental features to neurodevelopmental disorders.

Main Methods:

  • Comparative genomics to identify conserved and divergent gene regulatory elements.
  • Analysis of gene duplication events in primate evolution.
  • Cellular and molecular studies of neural stem and progenitor cell behavior during corticogenesis.

Main Results:

  • Human corticogenesis exhibits prolonged neuronal generation and amplified stem/progenitor cell populations.
  • Rapidly divergent transcriptional regulatory elements and novel gene duplications are key features of human primate evolution.
  • These human-specific molecular innovations regulate critical cellular milestones in cortical development.

Conclusions:

  • Human cerebral cortex evolution is characterized by unique genetic and cellular mechanisms.
  • These mechanisms control key developmental stages and are implicated in neurodevelopmental disorders.
  • The study highlights the interconnectedness of human neural development, evolution, and disease.