The influence of genes on cortical structures has been assessed through various phenotypes. The sulcal pits, which are the putative first cortical folds, have for long been assumed to be under tight genetic control, but this was never quantified. We estimated the pit depth heritability in various brain regions using the high quality and large sample size of the Human Connectome Project pedigree cohort. Analysis of additive genetic variance indicated that their heritability ranges between 0.2 and 0.5 and displays a regional genetic control with an overall symmetric pattern between hemispheres. However, a noticeable asymmetry of heritability estimates is observed in the superior temporal sulcus and could thus be related to language lateralization. The heritability range estimated in this study reinforces the idea that cortical shape is determined primarily by nongenetic factors, which is consistent with the important increase of cortical folding from birth to adult life and thus predominantly constrained by environmental factors. Nevertheless, the genetic cues, implicated with various local levels of heritability in the formation of sulcal pits, play a fundamental role in the normal gyral pattern development. Quantifying their influence and identifying the underlying genetic variants would provide insight into neurodevelopmental disorders.
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http://dx.doi.org/10.1093/cercor/bhx098 | DOI Listing |
bioRxiv
June 2024
Fetal-Neonatal Neuroimaging & Developmental Science Center, Boston Children's Hospital, Boston, Massachusetts, USA.
Cortical gyrification takes place predominantly during the second to third trimester, alongside other fundamental developmental processes, such as the development of white matter connections, lamination of the cortex and formation of neural circuits. The mechanistic biology that drives the formation cortical folding patterns remains an open question in neuroscience. In our previous work, we modelled the in utero diffusion signal to quantify the maturation of microstructure in transient fetal compartments, identifying patterns of change in diffusion metrics that reflect critical neurobiological transitions occurring in the second to third trimester.
View Article and Find Full Text PDFAIMS Neurosci
January 2024
Normandie Univ, UNICAEN, ISTS, EA 7466, 14000 Caen, France.
Auditory verbal hallucinations (AVHs) are among the most common and disabling symptoms of schizophrenia. They involve the superior temporal sulcus (STS), which is associated with language processing; specific STS patterns may reflect vulnerability to auditory hallucinations in schizophrenia. STS sulcal pits are the deepest points of the folds in this region and were investigated here as an anatomical landmark of AVHs.
View Article and Find Full Text PDFNeuroimage
October 2023
School of Automation, Northwestern Polytechnical University, Xi'an 710129, China.
Genetic mechanisms have been hypothesized to be a major determinant in the formation of cortical folding. Although there is an increasing number of studies examining the heritability of cortical folding, most of them focus on sulcal pits rather than gyral peaks. Gyral peaks, which reflect the highest local foci on gyri and are consistent across individuals, remain unstudied in terms of heritability.
View Article and Find Full Text PDFJ Anat
October 2023
Sano Centre for Computational Personalised Medicine, Krakow, Poland.
Cereb Cortex
May 2023
School of Automation, School of Information Technology, and School of Life Science and Technology, Northwestern Polytechnical University, Xi'an 710000, China.
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