Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees.


Studying genetic mechanisms underlying primate brain morphology can provide insight into the evolution of human brain structure and cognition. In humans, loss-of-function mutations in the gene coding for ASPM (Abnormal Spindle Microtubule Assembly) have been associated with primary microcephaly, which is defined by a significantly reduced brain volume, intellectual disability and delayed development. However, less is known about the effects of common ASPM variation in humans and other primates. In this study, we characterized the degree of coding variation at ASPM in a large sample of chimpanzees (N = 241), and examined potential associations between genotype and various measures of brain morphology. We identified and genotyped five non-synonymous polymorphisms in exons 3 (V588G), 18 (Q2772K, K2796E, C2811Y) and 27 (I3427V). Using T1-weighted magnetic resonance imaging of brains, we measured total brain volume, cerebral gray and white matter volume, cerebral ventricular volume, and cortical surface area in the same chimpanzees. We found a potential association between ASPM V588G genotype and cerebral ventricular volume but not with the other measures. Additionally, we found that chimpanzee, bonobo, and human lineages each independently show a signature of accelerated ASPM protein evolution. Overall, our results suggest the potential effects of ASPM variation on cerebral cortical development, and emphasize the need for further functional studies. These results are the first evidence suggesting ASPM variation might play a role in shaping natural variation in brain structure in nonhuman primates.





Published Version (Please cite this version)


Publication Info

Singh, Sheel V, Nicky Staes, Elaine E Guevara, Steven J Schapiro, John J Ely, William D Hopkins, Chet C Sherwood, Brenda J Bradley, et al. (2019). Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees. Genes, brain, and behavior. 10.1111/gbb.12582 Retrieved from https://hdl.handle.net/10161/19252.

This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.



Elaine Elizabeth Gomez Guevara

Lecturer in Evolutionary Anthropology

Research interests: Aging and life history, sensory ecology, epigenetics, conservation, lemurs

Unless otherwise indicated, scholarly articles published by Duke faculty members are made available here with a CC-BY-NC (Creative Commons Attribution Non-Commercial) license, as enabled by the Duke Open Access Policy. If you wish to use the materials in ways not already permitted under CC-BY-NC, please consult the copyright owner. Other materials are made available here through the author’s grant of a non-exclusive license to make their work openly accessible.