Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,747 bioRxiv papers from 278,434 authors.

Planar cell polarity pathway and development of the human visual cortex

By Jean Shin, Shaojie Ma, Edith Hofer, Yash Patel, Gennady V Roshchupkin, André M. Sousa, Xueqiu Jian, Rebecca Gottesman, Thomas H Mosley, Myriam Fornage, Yasaman Saba, Lukas Pirpamer, Reinhold Schmidt, Helena Schmidt, Amaia Carrion-Castillo, Fabrice Crivello, Bernard Mazoyer, Joshua C Bis, Shuo Li, Qiong Yang, Michelle Luciano, Sherif Karama, Lindsay Lewis, Mark Bastin, Mathew A Harris, Joanna M Wardlaw, Ian E. Deary, Markus Scholz, Markus Loeffler, Veronica Witte, Frauke Beyer, Arno Villringer, Nicola J. Armstrong, Karen A. Mather, David Ames, Jiyang Jiang, John B. Kwok, Peter R. Schofield, Anbupalam Thalamuthu, Julian N. Trollor, Margaret J Wright, Henry Brodaty, Wei Wen, Perminder S. Sachdev, Natalie Terzikhan, Tavia E. Evans, Hieab HHH Adams, M Arfan Ikram, Stefan Frenzel, Sandra van der Auwera-Palitschka, Katharina Wittfeld, Robin Bülow, Hans Jörgen Grabe, Christophe Tzourio, Aniket Mishra, Sophie Maingault, Stephanie Debette, Nathan A Gillespie, Carol E Franz, William S Kremen, Linda Ding, Neda Jahanshad, the ENIGMA Consortium, Nenad Sestan, Zdenka Pausova, Sudha Seshadri, Tomas Paus, for the neuroCHARGE Working Group, Katrina L. Grasby, Jodie N Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P Hibar, Penelope A Lind, Fabrizio Pizzagalli, Christopher R.K. Ching, Mary Agnes B. McMahon, Natalia Shatokhina, Leo Zsembik, Ingrid Agartz, Saud Alhusaini, Marcio AA Almeida, Dag Alnæs, Inge K Amlien, Micael Andersson, Tyler Ard, Allison Ashley-Koch, Manon Bernard, Rachel M. Brouwer, Elizabeth EL Buimer, Christian Bürger, Dara M. Cannon, Mallasr Chakravarty, Qiang Chen, Joshua W. Cheung, Baptiste Couvy-Duchesne, Anders M Dale, Shareefa Dalvie, Tânia K de Araujo, Greig I. de Zubicaray, Sonja MC de Zwarte, Anouk den Braber, Nhat Trung Doan, Katharina Dohm, Stefan Ehrlich, Hannah-Ruth Engelbrecht, Susanne Erk, Chun Chieh Fan, Iryna O. Fedko, Sonya F Foley, Judith M Ford, Masaki Fukunaga, Melanie E. Garrett, Tian Ge, Sudheer Giddaluru, Aaron L. Goldman, Nynke A. Groenewold, Dominik Grotegerd, Tiril P. Gurholt, Boris A. Gutman, Narelle K. Hansell, Marc B Harrison, Courtney C. Haswell, Michael Hauser, Dirk J. Heslenfeld, David Hoehn, Laurena Holleran, Martine Hoogman, Jouke-Jan Hottenga, Masashi Ikeda, Deborah Janowitz, Iris E Jansen, Tianye Jia, Christiane Jockwitz, Ryota Kanai, Dalia Kasperaviciute, Tobias Kaufmann, Sinead Kelly, Masataka Kikuchi, Marieke Klein, Michael Knapp, Annchen R Knodt, Bernd Krämer, Thomas M Lancaster, Phil H. Lee, Tristram A Lett, Lindsay B Lewis, Iscia Lopes-Cendes, Fabio Macciardi, Andre F. Marquand, Samuel R Mathias, Tracy R Melzer, Yuri Milaneschi, Nazanin Mirza-Schreiber, Jose CV Moreira, Thomas W Mühleisen, Bertram Müller-Myhsok, Pablo Najt, Soichiro Nakahara, Kwangsik Nho, Loes M Olde Loohuis, Dimitri Papadopoulos Orfanos, John F Pearson, Toni L Pitcher, Benno Pütz, Anjanibhargavi Ragothaman, Faisal M. Rashid, Ronny Redlich, Céline S Reinbold, Jonathan Repple, Geneviève Richard, Brandalyn C Riedel, Shannon L. Risacher, Cristiane S Rocha, Nina Roth Mota, Lauren Salminen, Arvin Saremi, Andrew J. Saykin, Fenja Schlag, Lianne Schmaal, Rodrigo Secolin, Chin Yang Shapland, Li Shen, Elena Shumskaya, Ida E Sønderby, Emma Sprooten, Lachlan T. Strike, Katherine E Tansey, Alexander Teumer, Sophia I. Thomopoulos, Diana Tordesillas-Gutiérrez, Jessica A. Turner, Anne Uhlmann, Costanza Ludovica Vallerga, Dennis van der Meer, Marjolein MJ van Donkelaar, Liza van Eijk, Theo G.M. van Erp, Neeltje E.M. van Haren, Daan van Rooij, Marie-José van Tol, Jan H Veldink, Ellen Verhoef, Esther Walton, Yunpeng Wang, Lars T. Westlye, Christopher D. Whelan, Stephanie H. Witt, Christiane Wolf, Thomas Wolfers, Clarissa L. Yasuda, Dario Zaremba, Zuo Zhang, Alyssa H Zhu, Marcel P. Zwiers, Eric Artiges, Amelia A. Assareh, Rosa Ayesa-Arriola, Aysenil Belger, Christine L. Brandt, Gregory G Brown, Sven Cichon, Joanne E. Curran, Gareth E. Davies, Franziska Degenhardt, Bruno Dietsche, Srdjan Djurovic, Colin P. Doherty, Ryan Espiritu, Daniel Garijo, Yolanda Gil, Penny A Gowland, Robert C. Green, Alexander N Häusler, Walter Heindel, Beng-Choon Ho, Wolfgang U Hoffmann, Florian Holsboer, Georg Homuth, Norbert Hosten, Clifford R. Jack, MiHyun Jang, Andreas Jansen, Knut Kolskår, Sanne Koops, Axel Krug, Kelvin O. Lim, Jurjen J. Luykx, Daniel H Mathalon, Venkata S. Mattay, Sarah Matthews, Jaqueline Mayoral Van Son, Sarah C McEwen, Ingrid Melle, Derek W Morris, Bryon A. Mueller, Matthias Nauck, Jan E. Nordvik, Markus M Nöthen, Daniel S. O’Leary, Nils Opel, Marie - Laure Paillère Martinot, G. Bruce Pike, Adrian Preda, Erin B. Quinlan, Varun Ratnakar, Simone Reppermund, Vidar M. Steen, Fábio R Torres, Dick J. Veltman, James T Voyvodic, Robert Whelan, Tonya White, Hidenaga Yamamori, Marina KM Alvim, Tim J Anderson, Ole A Andreassen, Alejandro Arias-Vasquez, Mark E Bastin, Bernhard T. Baune, John Blangero, Dorret I Boomsma, Han G Brunner, Randy L. Buckner, Jan K Buitelaar, Juan R Bustillo, Wiepke Cahn, Vince Calhoun, Xavier Caseras, Svenja Caspers, Gianpiero L. Cavalleri, Fernando Cendes, Aiden Corvin, Benedicto Crespo-Facorro, John C Dalrymple-Alford, Udo Dannlowski, Eco J.C. de Geus, Ian J Deary, Norman Delanty, Chantal Depondt, Sylvane Desrivières, Gary Donohoe, Thomas Espeseth, Guillén Fernández, Simon E. Fisher, Herta Flor, Andreas J. Forstner, Clyde Francks, Barbara Franke, David C Glahn, Randy L. Gollub, Hans J Grabe, Oliver Gruber, Asta K Håberg, Ahmad R Hariri, Catharina A. Hartman, Ryota Hashimoto, Andreas Heinz, Manon H.J. Hillegers, Pieter J. Hoekstra, Avram J. Holmes, L Elliot Hong, William D Hopkins, Hilleke E. Hulshoff Pol, Terry L Jernigan, Erik G Jönsson, René S. Kahn, Martin A Kennedy, Tilo TJ Kircher, Peter Kochunov, John BJ Kwok, Stephanie Le Hellard, Nicholas G Martin, Jean - Luc Martinot, Colm McDonald, Katie L. McMahon, Andreas Meyer-Lindenberg, Rajendra A. Morey, Lars Nyberg, Jaap Oosterlaan, Roel A. Ophoff, Brenda W.J.H. Penninx, Tinca JC Polderman, Danielle Posthuma, Marcella Rietschel, Joshua L. Roffman, Laura M Rowland, Philipp G Sämann, Gunter Schumann, Kang Sim, Sanjay M. Sisodiya, Jordan W. Smoller, Iris E Sommer, Beate St Pourcain, Dan J. Stein, Arthur W Toga, Nic JA Van der Wee, Dennis van’t Ent, Henry Völzke, Henrik Walter, Bernd Weber, Daniel R Weinberger, Juan Zhou, Jason L Stein, Paul M Thompson, Sarah E Medland

Posted 31 Aug 2018
bioRxiv DOI: 10.1101/404558

The radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex1. 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 volume2,3 and/or general cognitive function4. 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 pathway5,6. 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.

Download data

  • Downloaded 490 times
  • Download rankings, all-time:
    • Site-wide: 19,676 out of 62,747
    • In neuroscience: 3,290 out of 11,207
  • Year to date:
    • Site-wide: 13,855 out of 62,747
  • Since beginning of last month:
    • Site-wide: 31,732 out of 62,747

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News