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Enhancer Locus in ch14q23.1 Modulates Brain Asymmetric Temporal Regions Involved in Language Processing
Yann Le Guen1, François Leroy2, Cathy Philippe1
1UNATI, Neurospin, Institut Joliot, CEA, Université Paris-Saclay, Gif-sur-Yvette 91191, France.
Cerebral Cortex (New York, N.Y. : 1991)
|May 21, 2020
Summary
Researchers identified a specific gene locus linked to the superior temporal asymmetrical pit (STAP), a brain structure crucial for human language evolution. This finding advances our understanding of the genetic basis of communication.
Area of Science:
- Neurogenetics
- Human Evolution
- Computational Neuroscience
Background:
- Understanding the genetic underpinnings of human brain evolution, particularly regions involved in language, is crucial for comprehending the emergence of language in Homo sapiens.
- The superior temporal asymmetrical pit (STAP) is a unique human brain feature, absent in chimpanzees, making it a valuable phenotype for studying genetic variations related to communication.
Purpose of the Study:
- To identify genetic variations associated with the superior temporal asymmetrical pit (STAP) and its role in the evolution of language-related brain structures.
- To investigate the specific genomic locus linked to STAP depth and its association with other neuroanatomical and functional brain characteristics.
Main Methods:
- Genome-wide association study (GWAS) using the UK Biobank discovery sample (N=16,515) to identify genetic associations with left STAP depth.
- Replication of significant findings in the IMAGEN cohort (N=1726) and a UK Biobank non-British validation sample (N=2161).
- Analysis of associations with other STAP features, structural MRI phenotypes, diffusion MRI (dMRI) for white matter integrity, and resting-state functional MRI (fMRI) for functional networks.
Main Results:
- A significant association was found between left STAP depth and a predicted enhancer annotation at the 14q23.1 locus (between DACT1 and KIAA0586).
- This locus was also associated with right STAP depth and the formation of 'plis de passage' but not other MRI-derived brain structures.
- dMRI revealed associations with the fractional anisotropy of left auditory fibers, and fMRI indicated links to linguistic processing networks.
Conclusions:
- The 14q23.1 genomic locus plays a specific role in the development of superior temporal regions essential for human communication.
- This finding provides a genetic target for understanding the evolution of language-related brain structures in humans.
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