TY - JOUR
T1 - Neanderthal-Derived Genetic Variation Shapes Modern Human Cranium and Brain
AU - Gregory, Michael D.
AU - Kippenhan, J. Shane
AU - Eisenberg, Daniel P.
AU - Kohn, Philip D.
AU - Dickinson, Dwight
AU - Mattay, Venkata S.
AU - Chen, Qiang
AU - Weinberger, Daniel R.
AU - Saad, Ziad S.
AU - Berman, Karen F.
N1 - Funding Information:
This work was supported by the NIMH Intramural Research Program (ZIAMH002942), clinical protocols 00-M-0085/NCT00004571 and 95M-0150/NCT00001486. Some of the analyses performed utilized the computational resources of the NIH HPC Biowulf cluster. (http://hpc.nih.gov). The authors would like to thank Svante Pääbo for his ideas and guidance on this work and Janet Kelso for her assistance with genetic analyses and insightful comments.
Publisher Copyright:
© 2017 The Author(s).
PY - 2017/12/1
Y1 - 2017/12/1
N2 - 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.
AB - 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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U2 - 10.1038/s41598-017-06587-0
DO - 10.1038/s41598-017-06587-0
M3 - Article
C2 - 28740249
AN - SCOPUS:85025842379
VL - 7
JO - Scientific Reports
JF - Scientific Reports
SN - 2045-2322
IS - 1
M1 - 6308
ER -