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  Planar cell polarity pathway and development of the human visual cortex

Shin, J., Ma, S., Hofer, E., Patel, Y., Roshchupkin, G. V., Sousa, A. M., et al. (2019). Planar cell polarity pathway and development of the human visual cortex. bioRxiv. doi:10.1101/404558.

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Shin, Jean 1, Author
Ma, Shaojie 1, Author
Hofer, Edith 1, Author
Patel, Yash 1, Author
Roshchupkin, Gennady V. 1, Author
Sousa, André M. 1, Author
Jian, Xueqiu 1, Author
Gottesman, Rebecca 1, Author
Mosley, Thomas H.1, Author
Fornage, Myriam1, Author
Saba, Yasaman 1, Author
Pirpamer, Lukas 1, Author
Schmidt, Reinhold 1, Author
Schmidt, Helena 1, Author
Carrion-Castillo, Amaia 1, Author
Crivello, Fabrice 1, Author
Mazoyer, Bernard 1, Author
Bis, Joshua C. 1, Author
Li, Shuo 1, Author
Yang, Qiong 1, Author
Luciano, Michelle 1, AuthorKarama, Sherif 1, AuthorLewis, Lindsay1, AuthorBastin, Mark 1, AuthorHarris, Mathew A. 1, AuthorWardlaw, Joanna M. 1, AuthorDeary, Ian E. 1, AuthorScholz, Markus 1, AuthorLoeffler, Markus 1, AuthorWitte, A. Veronica1, 2, Author              Beyer, Frauke1, 2, Author              Villringer, Arno1, 2, Author              Armstrong, Nicola J. 1, AuthorMather, Karen A.1, AuthorAmes, David 1, AuthorJiang, Jiyang 1, AuthorKwok, John B. 1, AuthorSchofield, Peter R.1, AuthorThalamuthu, Anbupalam 1, AuthorTrollor, Julian N.1, AuthorWright, Margaret J.1, AuthorBrodaty, Henry 1, AuthorWen, Wei 1, AuthorSachdev, Perminder S.1, AuthorTerzikhan, Natalie 1, AuthorEvans, Tavia E.1, AuthorAdams, Hieab H. H. H. 1, AuthorIkram, M. Arfan 1, AuthorFrenzel, Stefan 1, Authorvan der Auwera-Palitschka, Sandra 1, AuthorWittfeld, Katharina 1, AuthorBülow, Robin 1, AuthorGrabe, Hans Jörgen 1, AuthorTzourio, Christophe 1, AuthorMishra , Aniket 1, AuthorMaingault, Sophie 1, AuthorDebette, Stephanie 1, AuthorGillespie, Nathan A.1, AuthorFranz, Carol E. 1, AuthorKremen, William S.1, AuthorDing, Linda 1, AuthorJahanshad, Neda 1, AuthorENIGMA Consortium, Author              Sestan, Nenad1, AuthorPausova, Zdenka 1, AuthorSeshadri, Sudha 1, AuthorPaus, Tomas 1, AuthorneuroCHARGE Working Group, Author               more..
1External Organizations, ou_persistent22              
2Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


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 Abstract: The radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex. Using principal component analysis (PCA), we have identified cortical regions with shared variance in their surface area and cortical thickness, respectively, segmented from magnetic resonance images obtained in 23,800 participants. We then carried out meta-analyses of genome-wide association studies of the first two principal components for each phenotype. For surface area (but not cortical thickness), we have detected strong associations between each of the components and single nucleotide polymorphisms in a number of gene loci. The first (global) component was associated mainly with loci on chromosome 17 (9.5e-32 ≤ p ≤ 2.8e-10), including those detected previously as linked with intracranial volume and/or general cognitive function. The second (regional) component captured shared variation in the surface area of the primary and adjacent secondary visual cortices and showed a robust association with polymorphisms in a locus on chromosome 14 containing Disheveled Associated Activator of Morphogenesis 1 (DAAM1; p=2.4e-34). DAAM1 is a key component in the planar-cell-polarity signaling pathway. In follow-up studies, we have focused on the latter finding and established that: (1) DAAM1 is highly expressed between 12th and 22nd post-conception weeks in the human cerebral cortex; (2) genes co-expressed with DAAM1 in the primary visual cortex are enriched in mitochondria-related pathways; and (3) volume of the lateral geniculate nucleus, which projects to regions of the visual cortex staining for cytochrome oxidase (a mitochondrial enzyme), correlates with the surface area of the visual cortex in major-allele homozygotes but not in carriers of the minor allele. Altogether, we speculate that, in concert with thalamocortical input to cortical subplate, DAAM1 enables migration of neurons to cytochrome-oxidase rich regions of the visual cortex, and, in turn, facilitates regional expansion of this set of cortical regions during development.


Language(s): eng - English
 Dates: 2019-04-25
 Publication Status: Published online
 Pages: -
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 Rev. Type: No review
 Identifiers: DOI: 10.1101/404558
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Title: bioRxiv
Source Genre: Journal
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