Neanderthal-Derived Genetic Variation Shapes Modern Human Cranium and Brain
Open accessAbstract
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.
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In our sample of 4,468 individuals, markers in the GPR26 gene highlighted by a prior study showed no association with variability in endocranial globularity (all p > 0.05).
“we assessed these markers in our sample of 4,468 individuals but saw no association with variability in endocranial globularity (all p > 0.05).”
From Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity (2019) · cites this paper as [23]
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Tarihteki İlk İzleri ile Şizofreni
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The Birth of Our Free Imagination
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- Authors
- Gregory, M. D., Kippenhan, J. S., Eisenberg, D. P., Kohn, P. D., Dickinson, D., Mattay, V. S., Chen, Q., Weinberger, D. R., Saad, Z. S., & Berman, K. F.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Gregory, Michael D.
- Berman, Karen F.
- ORCID
- Venue
- Scientific Reports
- Published
- 2017-07-24
- Volume
- 7
- Issue
- 1
- Pages
- 6308-6308
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC5524936
- OpenAlex
- W2736965052
- Cited by
- 69
- References
- 58
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 12 · 2023: 7 · 2022: 10 · 2021: 6 · 2020: 5 · 2019: 6 · 2018: 8 · 2017: 4
- FWCI
- 25.31
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health
- National Institute of Mental Health (NCT00001486, 95-M-0150, NCT00001486, ZIAMH002942)
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- Neanderthal admixture, skull morphology, brain structure, occipital bone, parietal bone, gray matter volume, white matter volume, sulcal depth, gyrification index, visual cortex, intraparietal sulcus, human evolution
- MeSH terms
- Adult, Animals, Brain, Female, Fossils, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Skull, Evolution, Molecular, Polymorphism, Single Nucleotide, White People, Gene Flow, Young Adult, Neanderthals, Healthy Volunteers
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