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Sci Rep. 2017 Jul 24;7(1):6308. doi: 10.1038/s41598-017-06587-0.

Neanderthal-Derived Genetic Variation Shapes Modern Human Cranium and Brain.

Author information

1
Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA. gregorymd@mail.nih.gov.
2
Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
3
Psychosis and Cognitive Studies Section, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
4
Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
5
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
6
Departments of Psychiatry, Neuroscience, and the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
7
Scientific and Statistical Computing Core, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
8
Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA. bermank@mail.nih.gov.
9
Psychosis and Cognitive Studies Section, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA. bermank@mail.nih.gov.

Abstract

Before their disappearance from the fossil record approximately 40,000 years ago, Neanderthals, the ancient hominin lineage most closely related to modern humans, interbred with ancestors of present-day humans. The legacy of this gene flow persists through Neanderthal-derived variants that survive in modern human DNA; however, the neural implications of this inheritance are uncertain. Here, using MRI in a large cohort of healthy individuals of European-descent, we show that the amount of Neanderthal-originating polymorphism carried in living humans is related to cranial and brain morphology. First, as a validation of our approach, we demonstrate that a greater load of Neanderthal-derived genetic variants (higher "NeanderScore") is associated with skull shapes resembling those of known Neanderthal cranial remains, particularly in occipital and parietal bones. Next, we demonstrate convergent NeanderScore-related findings in the brain (measured by gray- and white-matter volume, sulcal depth, and gyrification index) that localize to the visual cortex and intraparietal sulcus. This work provides insights into ancestral human neurobiology and suggests that Neanderthal-derived genetic variation is neurologically functional in the contemporary population.

PMID:
28740249
PMCID:
PMC5524936
DOI:
10.1038/s41598-017-06587-0
[Indexed for MEDLINE]
Free PMC Article

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