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Genetic Influence on the Sulcal Pits: On the Origin of the First Cortical Folds.

ABSTRACT: 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.

SUBMITTER: Le Guen Y

PROVIDER: S-EPMC7190941 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Sulcal pits, the locally deepest points in sulci of the highly convoluted and variable cerebral cortex, are found to be spatially consistent across human adult individuals. It is suggested that sulcal pits are genetically controlled and have close relationships with functional areas. To date, the existing imaging studies of sulcal pits are mainly focused on adult brains, yet little is known about the spatial distribution and temporal development of sulcal pits in the first 2 years of life, which is the most dynamic and critical period of postnatal brain development. Studying sulcal pits during this period would greatly enrich our limited understandings of the origins and developmental trajectories of sulcal pits, and would also provide important insights into many neurodevelopmental disorders associated with abnormal cortical foldings. In this paper, by using surface-based morphometry, for the first time, we systemically investigated the spatial distribution and temporal development of sulcal pits in major cortical sulci from 73 healthy infants, each with three longitudinal 3T MR scans at term birth, 1 year, and 2 years of age. Our results suggest that the spatially consistent distributions of sulcal pits in major sulci across individuals have already existed at term birth and this spatial distribution pattern keeps relatively stable in the first 2 years of life, despite that the cerebral cortex expands dramatically and the sulcal depth increases considerably during this period. Specially, the depth of sulcal pits increases regionally heterogeneously, with more rapid growth in the high-order association cortex, including the prefrontal and temporal cortices, than the sensorimotor cortex in the first 2 years of life. Meanwhile, our results also suggest that there exist hemispheric asymmetries of the spatial distributions of sulcal pits in several cortical regions, such as the central, superior temporal and postcentral sulci, consistently from birth to 2 years of age, which likely has close relationships with the lateralization of brain functions of these regions. This study provides detailed insights into the spatial distribution and temporal development of deep sulcal landmarks in infants.

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Genetic Influence on the Sulcal Pits: On the Origin of the First Cortical Folds.

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