Abstract
PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer’s disease, Parkinson’s disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that single-nucleotide polymorphisms within the intron and 3′-untranslated region segments of several human PlexinA genes alter the post-natal developmental trajectory of corpus callosum microstructure. This is the first demonstration that PLXNA mediation of neuroanatomical traits can be detected in humans using in vivo neuroimaging techniques. This result should encourage future research that targets specific disease-related polymorphisms and their relevant neural pathways.
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Acknowledgements
Data collection and sharing for this project was funded by the Pediatric Imaging, Neurocognition and Genetics Study (PING) via the National Institutes of Health Grant RC2DA029475 and the National Institute on Drug Abuse and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. PING data are disseminated by the PING Coordinating Center at the Center for Human Development, University of California, San Diego. This work was supported by a grant to SB from the Natural Sciences and Engineering Research Council (NSERC) of Canada.
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Belyk, M., Kraft, S., Brown, S. et al. PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure. J Hum Genet 60, 147–150 (2015). https://doi.org/10.1038/jhg.2014.107
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DOI: https://doi.org/10.1038/jhg.2014.107
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