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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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Genetic variations within human gained enhancer elements affect human brain sulcal morphology.

Herve Lemaitre1, Yann Le Guen2, Amanda K Tilot3

  • 1Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de bordeaux, Centre Broca Nouvelle-Aquitaine, Bordeaux, France.

Neuroimage
|November 28, 2022
PubMed
Summary

Human brain evolution involved cerebral cortex expansion, linked to cognitive abilities. New research shows human-specific gene regulatory elements significantly influence brain sulcal morphology, connecting genetic changes to human brain structure evolution.

Keywords:
EvolutionGenome-wide associationHuman gained enhancersNeuroimagingSulcal morphology

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Area of Science:

  • Evolutionary biology
  • Neuroscience
  • Genetics

Background:

  • The human brain's cerebral cortex expansion and folding are key evolutionary changes.
  • These modifications are hypothesized to underpin advanced cognitive functions.
  • Previous studies identified evolutionary genetic changes by comparing humans, hominins, and primates.

Purpose of the Study:

  • To investigate the genetic basis of human sulcal morphology.
  • To assess the role of specific genomic annotations in shaping brain structure.
  • To link evolutionary genetic changes to human brain folding patterns.

Main Methods:

  • Utilized magnetic resonance imaging (MRI) data from over 18,000 UK Biobank participants.
  • Analyzed genomic annotations, focusing on human-gained enhancers.
  • Correlated genetic variation with measurements of human sulcal morphology.

Main Results:

  • Variation in brain-expressed human-gained enhancers significantly explained heritability for specific sulci (calloso-marginal posterior, central sulcus).
  • These regulatory elements, unique since the divergence from Old World monkeys, show a strong link to brain structure.
  • The identified sulci are evolutionarily significant, associated with primate locomotion and hominin bipedalism.

Conclusions:

  • Human-specific regulatory elements play a crucial role in shaping the human brain's unique sulcal morphology.
  • These findings connect recent evolutionary genetic changes to distinct anatomical features of the human brain.
  • The study highlights the genetic underpinnings of brain evolution related to key hominin adaptations.