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December 2019

Zebrafish mef2ca mutants display variable craniofacial phenotypes. In this study, we showed that selective breeding for penetrance of mutant phenotypes can rapidly produce strains of fish that are highly sensitive to, or resilient against the deleterious mutation. Comparing the selectively bred strains reveals that artificial selection can change the genetic circuitry. Specifically, the downstream genes her6 and dlx5a are tuned so that the initial dysregulation is later corrected during patterning of the pharyngeal arches, shown here by in situ hybridization and the fli1a:EGFP transgene.

Image Credit: Raisa Bailon, University of Colorado Denver.

Research Articles

Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway

Juliana Sucharov, Kuval Ray, Elliott P. Brooks, James T. Nichols

The polyamine transporter Slc18b1(VPAT) is important for both short and long time memory and for regulation of polyamine content in the brain

Robert Fredriksson, Smitha Sreedharan, Karin Nordenankar, Johan Alsiö, Frida A. Lindberg, Ashley Hutchinson, Anders Eriksson, Sahar Roshanbin, Diana M. Ciuculete, Anica Klockars, Aniruddha Todkar, Maria G. Hägglund, Sofie V. Hellsten, Viktoria Hindlycke, Åke Västermark, Ganna Shevchenko, Gaia Olivo, Cheng K, Klas Kullander, Ali Moazzami, Jonas Bergquist, Pawel K. Olszewski, Helgi B. Schiöth

An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior

Tyler Buddell, Vladislav Friedman, Cody J. Drozd, Christopher C. Quinn

Defects in the GINS complex increase the instability of repetitive sequences via a recombination-dependent mechanism

Malgorzata Jedrychowska, Milena Denkiewicz-Kruk, Malgorzata Alabrudzinska, Adrianna Skoneczna, Piotr Jonczyk, Michal Dmowski, Iwona J. Fijalkowska

Mediator subunit MDT-15/MED15 and Nuclear Receptor HIZR-1/HNF4 cooperate to regulate toxic metal stress responses in Caenorhabditis elegans

Naomi Shomer, Alexandre Zacharie Kadhim, Jennifer Margaret Grants, Xuanjin Cheng, Deema Alhusari, Forum Bhanshali, Amy Fong-Yuk Poon, Michelle Ying Ya Lee, Anik Muhuri, Jung In Park, James Shih, Dongyeop Lee, Seung-Jae V. Lee, Francis Christopher Lynn, Stefan Taubert

A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21

Jonathan M. Chernus, Emily G. Allen, Zhen Zeng, Eva R. Hoffman, Terry J. Hassold, Eleanor Feingold, Stephanie L. Sherman

Leveraging allelic imbalance to refine fine-mapping for eQTL studies

Jennifer Zou, Farhad Hormozdiari, Brandon Jew, Stephane E. Castel, Tuuli Lappalainen, Jason Ernst, Jae Hoon Sul, Eleazar Eskin

Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy

Nicole F. Liachko, Aleen D. Saxton, Pamela J. McMillan, Timothy J. Strovas, C. Dirk Keene, Thomas D. Bird, Brian C. Kraemer

Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

Anders Kämpe, Maria Enlund-Cerullo, Saara Valkama, Elisa Holmlund-Suila, Jenni Rosendahl, Helena Hauta-alus, Minna Pekkinen, Sture Andersson, Outi Mäkitie

APOBEC3A is a prominent cytidine deaminase in breast cancer

Luis M. Cortez, Amber L. Brown, Madeline A. Dennis, Christopher D. Collins, Alexander J. Brown, Debra Mitchell, Tony M. Mertz, Steven A. Roberts

Hybridization promotes asexual reproduction in Caenorhabditis nematodes

Piero Lamelza, Janet M. Young, Luke M. Noble, Lews Caro, Arielle Isakharov, Meenakshi Palanisamy, Matthew V. Rockman, Harmit S. Malik, Michael Ailion

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes

Jan Henkel, Rashid Saif, Vidhya Jagannathan, Corinne Schmocker, Flurina Zeindler, Erika Bangerter, Ursula Herren, Dimitris Posantzis, Zafer Bulut, Philippe Ammann, Cord Drögemüller, Christine Flury, Tosso Leeb

Drosophila RpS12 controls translation, growth, and cell competition through Xrp1

Zhejun Ji, Marianthi Kiparaki, Virginia Folgado, Amit Kumar, Jorge Blanco, Gerard Rimesso, Jacky Chuen, Yang Liu, Deyou Zheng, Nicholas E. Baker

A transcriptome-based signature of pathological angiogenesis predicts breast cancer patient survival

Rodrigo Guarischi-Sousa, Jhonatas S. Monteiro, Lilian C. Alecrim, Jussara S. Michaloski, Laura B. Cardeal, Elisa N. Ferreira, Dirce M. Carraro, Diana N. Nunes, Emmanuel Dias-Neto, Jüri Reimand, Paul C. Boutros, João C. Setubal, Ricardo J. Giordano

Experimental population modification of the malaria vector mosquito, Anopheles stephensi

Thai Binh Pham, Celine Hien Phong, Jared B. Bennett, Kristy Hwang, Nijole Jasinskiene, Kiona Parker, Drusilla Stillinger, John M. Marshall, Rebeca Carballar-Lejarazú, Anthony A. James

Latent transcriptional variations of individual Plasmodium falciparum uncovered by single-cell RNA-seq and fluorescence imaging

Katelyn A. Walzer, Hélène Fradin, Liane Y. Emerson, David L. Corcoran, Jen-Tsan Chi

Identification of novel genes involved in phosphate accumulation in Lotus japonicus through Genome Wide Association mapping of root system architecture and anion content

Marco Giovannetti, Christian Göschl, Christof Dietzen, Stig U. Andersen, Stanislav Kopriva, Wolfgang Busch

Restricted and non-essential redundancy of RNAi and piRNA pathways in mouse oocytes

Eliska Taborska, Josef Pasulka, Radek Malik, Filip Horvat, Irena Jenickova, Zoe Jelić Matošević, Petr Svoboda

Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives

Madison Caballero, Daniel N. Seidman, Ying Qiao, Jens Sannerud, Thomas D. Dyer, Donna M. Lehman, Joanne E. Curran, Ravindranath Duggirala, John Blangero, Shai Carmi, Amy L. Williams

A divergent CheW confers plasticity to nucleoid-associated chemosensory arrays

Annick Guiseppi, Juan Jesus Vicente, Julien Herrou, Deborah Byrne, Aurelie Barneoud, Audrey Moine, Leon Espinosa, Marie-Jeanne Basse, Virginie Molle, Tâm Mignot, Philippe Roche, Emilia M. F. Mauriello

Common gardens in teosintes reveal the establishment of a syndrome of adaptation to altitude

Margaux-Alison Fustier, Natalia E. Martínez-Ainsworth, Jonás A. Aguirre-Liguori, Anthony Venon, Hélène Corti, Agnès Rousselet, Fabrice Dumas, Hannes Dittberner, María G. Camarena, Daniel Grimanelli, Otso Ovaskainen, Matthieu Falque, Laurence Moreau, Juliette de Meaux, Salvador Montes-Hernández, Luis E. Eguiarte, Yves Vigouroux, Domenica Manicacci, Maud I. Tenaillon

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Madeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy Avery, Kathleen C. Barnes, Lewis C. Becker, Stephanie A. Bien, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Steve Buyske, Jianwen Cai, Michael H. Cho, Seung Hoan Choi, Hélène Choquet, L. Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S. de Vries, Patrick T. Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K. Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R. Heckbert, Bertha Hidalgo, Chani J. Hodonsky, Marguerite R. Irvin, Andrew D. Johnson, Eric Jorgenson, Robert Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Charles Kooperberg, Jessica A. Lasky-Su, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Caitlin P. McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C. Morrison, Nicholette D. Palmer, Nathan Pankratz, George J. Papanicolaou, Juan M. Peralta, Patricia A. Peyser, Stephen S. Rich, Jerome I. Rotter, Edwin K. Silverman, Jennifer A. Smith, Nicholas L. Smith, Kent D. Taylor, Timothy A. Thornton, Hemant K. Tiwari, Russell P. Tracy, Tao Wang, Scott T. Weiss, Lu-Chen Weng, Kerri L. Wiggins, James G. Wilson, Lisa R. Yanek, Sebastian Zöllner, Kari E. North, Paul L. Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M. Raffield, Alexander P. Reiner, Yun Li

A GWAS approach identifies Dapp1 as a determinant of air pollution-induced airway hyperreactivity

Hadi Maazi, Jaana A. Hartiala, Yuzo Suzuki, Amanda L. Crow, Pedram Shafiei Jahani, Jonathan Lam, Nisheel Patel, Diamanda Rigas, Yi Han, Pin Huang, Eleazar Eskin, Aldons. J. Lusis, Frank D. Gilliland, Omid Akbari, Hooman Allayee

Characterization of Aspergillus nidulans TRAPPs uncovers unprecedented similarities between fungi and metazoans and reveals the modular assembly of TRAPPII

Mario Pinar, Ernesto Arias-Palomo, Vivian de los Ríos, Herbert N. Arst Jr, Miguel A. Peñalva

Phosphatidylserine synthase regulates cellular homeostasis through distinct metabolic mechanisms

Xiao Yang, Jingjing Liang, Long Ding, Xia Li, Sin-Man Lam, Guanghou Shui, Mei Ding, Xun Huang

Genetic determinants of genus-level glycan diversity in a bacterial protein glycosylation system

Chris Hadjineophytou, Jan Haug Anonsen, Nelson Wang, Kevin C. Ma, Raimonda Viburiene, Åshild Vik, Odile B. Harrison, Martin C. J. Maiden, Yonatan H. Grad, Michael Koomey

BLISTER-regulated vegetative growth is dependent on the protein kinase domain of ER stress modulator IRE1A in Arabidopsis thaliana

Zheng-Hui Hong, Tao Qing, Daniel Schubert, Julia Anna Kleinmanns, Jian-Xiang Liu

Inhibition of FLT1 ameliorates muscular dystrophy phenotype by increased vasculature in a mouse model of Duchenne muscular dystrophy

Mayank Verma, Yuko Shimizu-Motohashi, Yoko Asakura, James P. Ennen, Jennifer Bosco, Zhiwei Zhou, Guo-Hua Fong, Serene Josiah, Dennis Keefe, Atsushi Asakura

CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4

Andrew M. Garrett, Peter J. Bosch, David M. Steffen, Leah C. Fuller, Charles G. Marcucci, Alexis A. Koch, Preeti Bais, Joshua A. Weiner, Robert W. Burgess

The MITF-SOX10 regulated long non-coding RNA DIRC3 is a melanoma tumour suppressor

Elizabeth A. Coe, Jennifer Y. Tan, Michael Shapiro, Pakavarin Louphrasitthiphol, Andrew R. Bassett, Ana C. Marques, Colin R. Goding, Keith W. Vance

Aspergillus fumigatus calcium-responsive transcription factors regulate cell wall architecture promoting stress tolerance, virulence and caspofungin resistance

Patrícia Alves de Castro, Ana Cristina Colabardini, Adriana Oliveira Manfiolli, Jéssica Chiaratto, Lilian Pereira Silva, Eliciane Cevolani Mattos, Giuseppe Palmisano, Fausto Almeida, Gabriela Felix Persinoti, Laure Nicolas Annick Ries, Laura Mellado, Marina Campos Rocha, Michael Bromley, Roberto Nascimento Silva, Gabriel Scalini de Souza, Flávio Vieira Loures, Iran Malavazi, Neil Andrew Brown, Gustavo H. Goldman

Common alleles of CMT2 and NRPE1 are major determinants of CHH methylation variation in Arabidopsis thaliana

Eriko Sasaki, Taiji Kawakatsu, Joseph R. Ecker, Magnus Nordborg

Identification of avoidance genes through neural pathway-specific forward optogenetics

Filipe Marques, Gabriella Saro, Andrei-Stefan Lia, Richard J. Poole, Laurent Falquet, Dominique A. Glauser

Corrections

Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

Felix Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Magi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Gudmar Thorleifsson, Juan Fernandez-Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn G. A. Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea Davis, Barbara Obermayer-Pietsch, André G. Uitterlinden, Verneri Anttila, Benjamin M. Neale, Marjo-Riitta Jarvelin, Bart Fauser, Irina Kowalska, Jenny A. Visser, Marianne Andersen, Ken Ong, Elisabet Stener-Victorin, David Ehrmann, Richard S. Legro, Andres Salumets, Mark I. McCarthy, Laure Morin-Papunen, Unnur Thorsteinsdottir, Kari Stefansson, the 23andMe Research Team, Unnur Styrkarsdottir, John R. B. Perry, Andrea Dunaif, Joop Laven, Steve Franks, Cecilia M. Lindgren, Corrine K. Welt

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