Biology & Life Sciences

Craniofacial Genetics

Published April 10, 2019 Curated Collections

Despite widespread fascination with the structure of the human face, there is still limited understanding of the molecular basis behind facial variation, from the morphological variation behind our unique facial appearance to the rare craniofacial malformations seen in the clinic. This collection contains a curated selection of research from Guest Editors Seth Weinberg, Robert Cornell and Elizabeth Leslie, with a focus on their specific areas of interest: craniofacial morphogenesis, dysmorphology and syndromes, and normal human facial variation.

Image Credit: Claes, Shriver.

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Editorial
Genes and pathways controlling craniofacial morphogenesis
The genetics of craniofacial malformations and syndromes
The complex genetics underlying craniofacial morphology

Editorial

Image credit
Claes, Shriver.

PLOS Genetics Craniofacial genetics: where have we been and where are we going?
June 21, 2018 Seth Weinberg, Robert Cornell, Elizabeth Leslie

Genes and pathways controlling craniofacial morphogenesis

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10.1371/journal.pgen.1007973

PLOS Genetics Genome-wide association study reveals sex-specific genetic architecture of facial attractiveness
April 4, 2019 Bowen Hu, Ning Shen, James J. Li, Hyunseung Kang, Jinkuk Hong, Jason Fletcher, Jan Greenberg, Marsha R. Mailick, Qiongshi Lu
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10.1371/journal.pgen.1008030

PLOS Genetics Genes influence facial attractiveness through intricate biological relationships
April 4, 2019 Julie D. White, David A. Puts
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10.1371/journal.pone.0014396

PLOS ONE Visualization of Gli Activity in Craniofacial Tissues of Hedgehog-Pathway Reporter Transgenic Zebrafish
December 21, 2010 Tyler Schwend, Evyn J. Loucks, Sara C. Ahlgren
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10.1371/journal.pgen.1002938

PLOS Genetics An Essential Role of Variant Histone H3.3 for Ectomesenchyme Potential of the Cranial Neural Crest
September 20, 2012 Samuel G. Cox, Hyunjung Kim, Aaron Timothy Garnett, Daniel Meulemans Medeiros, Woojin An, J. Gage Crump
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10.1371/journal.pgen.1004726

PLOS Genetics Fat-Dachsous Signaling Coordinates Cartilage Differentiation and Polarity during Craniofacial Development
October 23, 2014 Pierre Le Pabic, Carrie Ng, Thomas F. Schilling
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10.1371/journal.pbio.1001852

PLOS Biology Rabconnectin-3a Regulates Vesicle Endocytosis and Canonical Wnt Signaling in Zebrafish Neural Crest Migration
May 6, 2014 Adam M. Tuttle, Trevor L. Hoffman, Thomas F. Schilling
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10.1371/journal.pgen.1007000

PLOS Genetics Guidelines for morpholino use in zebrafish
October 19, 2017 Didier Y. R. Stainier, Erez Raz, Nathan D. Lawson, Stephen C. Ekker, Rebecca D. Burdine, Judith S. Eisen, Philip W. Ingham, Stefan Schulte-Merker, Deborah Yelon, Brant M. Weinstein, Mary C. Mullins, Stephen W. Wilson, Lalita Ramakrishnan, Sharon L. Amacher, Stephan C. F. Neuhauss, Anming Meng, Naoki Mochizuki, Pertti Panula, Cecilia B. Moens

The genetics of craniofacial malformations and syndromes

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10.1371/journal.pgen.1005914

PLOS Genetics Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene
March 11, 2016 Kerstin U. Ludwig, Syeda Tasnim Ahmed, Anne C. Böhmer, Nasim Bahram Sangani, Sheryil Varghese, Johanna Klamt, Hannah Schuenke, Pinar Gültepe, Andrea Hofmann, Michele Rubini, Khalid Ahmed Aldhorae, Regine P. Steegers-Theunissen, Augusto Rojas-Martinez, Rudolf Reiter, Guntram Borck, Michael Knapp, Mitsushiro Nakatomi, Daniel Graf, Elisabeth Mangold, Heiko Peters
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10.1371/journal.pone.0184702

PLOS ONE Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype
September 15, 2017 Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma
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10.1371/journal.pone.0184358

PLOS ONE Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): An application to European and Asian cleft palate trios
September 12, 2017 Øystein A. Haaland, Astanand Jugessur, Miriam Gjerdevik, Julia Romanowska, Min Shi, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray, Allen J. Wilcox, Rolv T. Lie, Håkon K. Gjessing
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10.1371/journal.pgen.1006679

PLOS Genetics COLEC10 is mutated in 3MC patients and regulates early craniofacial development
March 16, 2017 Mustafa M. Munye, Anna Diaz-Font, Louise Ocaka, Maiken L. Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W. Hansen, Chiara Bacchelli, Philip L. Beales, Victor Hernandez-Hernandez
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10.1371/journal.pgen.1007009

PLOS Genetics Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model
September 25, 2017 Edward B. Li, Dawn Truong, Shawn A. Hallett, Kusumika Mukherjee, Brian C. Schutte, Eric C. Liao

The complex genetics underlying craniofacial morphology

Image credit
10.1371/journal.pgen.1002932

PLOS Genetics A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
September 13, 2012 Fan Liu, Fedde van der Lijn, Claudia Schurmann, Gu Zhu, M. Mallar Chakravarty, Pirro G. Hysi, Andreas Wollstein, Oscar Lao, Marleen de Bruijne, M. Arfan Ikram, Aad van der Lugt, Fernando Rivadeneira, André G. Uitterlinden, Albert Hofman, Wiro J. Niessen, Georg Homuth, Greig de Zubicaray, Katie L. McMahon, Paul M. Thompson, Amro Daboul, Ralf Puls, Katrin Hegenscheid, Liisa Bevan, Zdenka Pausova, Sarah E. Medland, Grant W. Montgomery, Margaret J. Wright, Carol Wicking, Stefan Boehringer, Timothy D. Spector, Tomáš Paus, Nicholas G. Martin, Reiner Biffar, Manfred Kayser
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10.1371/journal.pgen.1005607

PLOS Genetics Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination
November 2, 2015 Luisa F. Pallares, Peter Carbonetto, Shyam Gopalakrishnan, Clarissa C. Parker, Cheryl L. Ackert-Bicknell, Abraham A. Palmer, Diethard Tautz
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10.1371/journal.pgen.1004224

PLOS Genetics Modeling 3D Facial Shape from DNA
March 20, 2014 Peter Claes, Denise K. Liberton, Katleen Daniels, Kerri Matthes Rosana, Ellen E. Quillen, Laurel N. Pearson, Brian McEvoy, Marc Bauchet, Arslan A. Zaidi, Wei Yao, Hua Tang, Gregory S. Barsh, Devin M. Absher, David A. Puts, Jorge Rocha, Sandra Beleza, Rinaldo W. Pereira, Gareth Baynam, Paul Suetens, Dirk Vandermeulen, Jennifer K. Wagner, James S. Boster, Mark D. Shriver
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10.1371/journal.pgen.1004724

PLOS Genetics Let’s Face It—Complex Traits Are Just Not That Simple
November 6, 2014 Benedikt Hallgrimsson, Washington Mio, Ralph S. Marcucio, Richard Spritz
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10.1371/journal.pgen.1004725

PLOS Genetics Establishing a Multidisciplinary Context for Modeling 3D Facial Shape from DNA
November 6, 2014 Peter Claes, Mark D. Shriver
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10.1371/journal.pgen.1006149

PLOS Genetics Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
August 25, 2016 John R. Shaffer, Ekaterina Orlova, Myoung Keun Lee, Elizabeth J. Leslie, Zachary D. Raffensperger, Carrie L. Heike, Michael L. Cunningham, Jacqueline T. Hecht, Chung How Kau, Nichole L. Nidey, Lina M. Moreno, George L. Wehby, Jeffrey C. Murray, Cecelia A. Laurie, Cathy C. Laurie, Joanne Cole, Tracey Ferrara, Stephanie Santorico, Ophir Klein, Washington Mio, Eleanor Feingold, Benedikt Hallgrimsson, Richard A. Spritz, Mary L. Marazita, Seth M. Weinberg
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10.1371/journal.pgen.1006174

PLOS Genetics Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape
August 25, 2016 Joanne B. Cole, Mange Manyama, Emmanuel Kimwaga, Joshua Mathayo, Jacinda R. Larson, Denise K. Liberton, Ken Lukowiak, Tracey M. Ferrara, Sheri L. Riccardi, Mao Li, Washington Mio, Michaela Prochazkova, Trevor Williams, Hong Li, Kenneth L. Jones, Ophir D. Klein, Stephanie A. Santorico, Benedikt Hallgrimsson, Richard A. Spritz
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10.1371/journal.pone.0196148

PLOS ONE Mapping genetic variants for cranial vault shape in humans
April 26, 2018 Jasmien Roosenboom, Myoung Keun Lee, Jacqueline T. Hecht, Carrie L. Heike, George L. Wehby, Kaare Christensen, Eleanor Feingold, Mary L. Marazita, A. Murat Maga, John R. Shaffer, Seth M. Weinberg